Human Gene Module / Chromosome 2 / SCN1A

SCN1Asodium channel, voltage-gated, type I, alpha subunit

Score
3S
Suggestive Evidence, Syndromic Criteria 3.1, Syndromic
Autism Reports / Total Reports
14 / 46
Rare Variants / Common Variants
126 / 3
Aliases
SCN1A, Na(v)1.1, FEB3,  NAC1,  SCN1,  SMEI,  HBSCI,  GEFSP2,  Nav1.1
Associated Syndromes
Dravet syndrome
Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association
Chromosome Band
2q24.3
Associated Disorders
DD/NDD, ID, ADHD, EPS, ASD
Relevance to Autism

Rare mutations in the SCN1A gene have been identified in individuals with autism (Weiss et al., 2003; O'Roak et al., 2011). In addition, several studies have identified SCN1A variants with epilepsy.

Molecular Function

This gene encodes the large alpha subunit of the vertebrate voltage-gated sodium channel essential for the generation and propagation of action potentials, mainly in nerve and muscle.

Reports related to SCN1A (46 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS. Escayg A , et al. (2000) No -
2 Highly Cited De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Claes L , et al. (2001) No -
3 Primary Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Weiss LA , et al. (2003) Yes -
4 Recent Recommendation Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Wolff M , et al. (2006) No -
5 Recent Recommendation Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Osaka H , et al. (2007) No Asperger syndrome
6 Recent Recommendation Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu... Ogiwara I , et al. (2007) No -
7 Support Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ , et al. (2011) Yes -
8 Support Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Klassen T , et al. (2011) No -
9 Support Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Shi YW , et al. (2011) No -
10 Support Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ , et al. (2012) Yes -
11 Support SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache. Frosk P , et al. (2012) No Epilepsy, ASD
12 Support Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. Kwong AK , et al. (2012) No ASD, ID
13 Recent recommendation Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. Thompson CH , et al. (2012) No -
14 Support Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. O'Roak BJ , et al. (2012) Yes -
15 Support Generalized epilepsy with febrile seizure plus (GEFS) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient. Tan EH , et al. (2012) No DD, ID
16 Recent Recommendation SCN1A testing for epilepsy: application in clinical practice. Hirose S , et al. (2013) No -
17 Support Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Carvill GL , et al. (2013) No ID, ASD, DD
18 Positive association De novo mutations in epileptic encephalopathies. Epi4K Consortium , et al. (2013) No IS, LGS, DD, ID, ASD, ADHD
19 Support Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Toma C , et al. (2013) Yes -
20 Positive association Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Kasperaviciute D , et al. (2013) No -
21 Support Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut... Koshimizu E , et al. (2013) Yes ID, epilepsy
22 Support Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
23 Support Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014) No -
24 Recent Recommendation Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. Li J , et al. (2015) Yes -
25 Recent recommendation Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Jiang Y , et al. (2015) No -
26 Recent recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
27 Support Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. Zhang Y , et al. (2015) No -
28 Support Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. D'Gama AM , et al. (2015) Yes -
29 Recent recommendation CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation. Liu J , et al. (2016) No -
30 Support Comprehensive molecular testing in patients with high functioning autism spectrum disorder. Alvarez-Mora MI , et al. (2016) Yes -
31 Support The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. Schuch JB , et al. (2016) No -
32 Support A Point Mutation in SCN1A 5' Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by... Gao QW , et al. (2016) No -
33 Support Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Fry AE , et al. (2016) No -
34 Support Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Riazuddin S , et al. (2016) No -
35 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
36 Support The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C , et al. (2016) No -
37 Support Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Trujillano D , et al. (2016) No -
38 Support Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Parrini E , et al. (2016) No Dravet syndrome (6/8 cases)
39 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
40 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) No -
41 Support Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients. Chrot E , et al. (2017) No -
42 Support Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J , et al. (2017) Yes -
43 Support Expanding the genetic heterogeneity of intellectual disability. Anazi S , et al. (2017) No -
44 Support High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Hamdan FF , et al. (2017) No DD/ID
45 Support Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Tumien B , et al. (2017) No Developmental regression
46 Support Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. de Lange IM , et al. (2018) No DD/ID (8/9 cases), ASD (3/9 cases), ADHD (2/9 case
Rare Variants   (126)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2624C>T p.Thr875Met missense_variant - - - 10742094 Escayg A , et al. (2000)
c.4943G>A p.Arg1648His missense_variant - - - 10742094 Escayg A , et al. (2000)
N/A N/A frameshift_variant De novo - - 11359211 Claes L , et al. (2001)
c.664C>T p.Arg222Ter stop_gained De novo - - 11359211 Claes L , et al. (2001)
c.2956C>T p.Leu986Phe missense_variant De novo - - 11359211 Claes L , et al. (2001)
N/A N/A frameshift_variant De novo - - 11359211 Claes L , et al. (2001)
G to A N/A splice_site_variant De novo - - 11359211 Claes L , et al. (2001)
N/A N/A frameshift_variant De novo - - 11359211 Claes L , et al. (2001)
N/A N/A frameshift_variant De novo - - 11359211 Claes L , et al. (2001)
c.1625G>A p.Arg542Gln missense_variant Familial Paternal Multiplex 12610651 Weiss LA , et al. (2003)
c.3101T>C p.Ile1034Thr missense_variant Familial Paternal Multiplex 12610651 Weiss LA , et al. (2003)
- p.Phe1038Leu missense_variant Familial Paternal Multiplex 12610651 Weiss LA , et al. (2003)
c.5864T>C p.Ile1955Thr missense_variant - - - 12610651 Weiss LA , et al. (2003)
c.4096G>A p.Val1366Ile missense_variant Familial Maternal - 17507202 Osaka H , et al. (2007)
c.4096G>A p.Val1366Ile missense_variant Familial Maternal - 17507202 Osaka H , et al. (2007)
c.4096G>A p.Val1366Ile missense_variant - - - 17507202 Osaka H , et al. (2007)
- p.Pro1894Leu missense_variant De novo - Simplex 21572417 O'Roak BJ , et al. (2011)
c.5538G>A p.(=) synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.4698T>C p.(=) synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
A>G p.Phe408Leu missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.5315C>T p.Ala1772Val missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.5314G>A p.Ala1772Thr missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.4847T>C p.Ile1616Thr missense_variant Familial Paternal Multiplex 22151702 Shi YW , et al. (2011)
c.5768A>G p.Gln1923Arg missense_variant Familial Paternal Multi-generational 22151702 Shi YW , et al. (2011)
c.5714C>T p.Pro1905Leu missense_variant De novo - Simplex 22495309 O'Roak BJ , et al. (2012)
c.3521C>G p.Thr1174Ser missense_variant Familial Maternal Simplex 22550089 Frosk P , et al. (2012)
c.2971_2972delCTinsG p.Leu991fsTer992 frameshift_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.4229delA p.Gln1410fsTer1411 frameshift_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.4558delC p.Gln1520fsTer1538 frameshift_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.1348C>T p.Gln450Ter stop_gained De novo - - 22848613 Kwong AK , et al. (2012)
c.569G>A p.Trp190Ter stop_gained De novo - - 22848613 Kwong AK , et al. (2012)
c.2214G>A p.Trp738Ter stop_gained De novo - - 22848613 Kwong AK , et al. (2012)
c.1053T>A p.Cys351Ter stop_gained Unknown - - 22848613 Kwong AK , et al. (2012)
IVS21+1G>A - splice_site_variant De novo - - 22848613 Kwong AK , et al. (2012)
IVS3+3A>C - splice_site_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.2378C>T p.Thr793Met missense_variant Familial Maternal - 22848613 Kwong AK , et al. (2012)
c.311C>T p.Ala104Val missense_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.4834G>A p.Val1612Ile missense_variant Familial Maternal - 22848613 Kwong AK , et al. (2012)
c.1177C>A p.Arg393Cys missense_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.1264G>A p.Val422Met missense_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.3641T>G p.Ile1214Arg missense_variant De novo - - 22848613 Kwong AK , et al. (2012)
c.1546G>A p.Asp516Asn missense_variant Unknown - - 22848613 Kwong AK , et al. (2012)
c.1390G>C p.Ala464Pro missense_variant Unknown - - 22848613 Kwong AK , et al. (2012)
c.5779C>T p.Arg1927Gly missense_variant De novo - Simplex 23160955 O'Roak BJ , et al. (2012)
c.5197A > G p.Asn1733Asp missense_variant De novo - - 23248692 Tan EH , et al. (2012)
c.4836delC p.Ile1613PhefsTer5 frameshift_variant De novo - - 23708187 Carvill GL , et al. (2013)
c.5962G>A p.Arg1988Trp missense_variant Familial Paternal and maternal Multi-generational 23708187 Carvill GL , et al. (2013)
c.4033G>A p.Pro1345Ser missense_variant De novo - - 23708187 Carvill GL , et al. (2013)
c.133G>A p.Asp45Asn missense_variant Familial Paternal Multi-generational 23708187 Carvill GL , et al. (2013)
c.3977G>A p.Ala1326Val missense_variant De novo - - 23708187 Carvill GL , et al. (2013)
c.1076T>G p.Asn359Thr missense_variant Familial Unknown Unknown 23708187 Carvill GL , et al. (2013)
c.1209delA p.Phe403LeufsTer12 frameshift_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.4453T>C p.Asn1485Asp missense_variant De novo - - 23708187 Carvill GL , et al. (2013)
c.179T>C p.Asn60Ser missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.519G>A p.Pro1732Leu missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.2917A>G p.Met973Val missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.650G>A p.Thr217Ile missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.945G>A p.Thr1793Ile missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.1852C>T p.Arg618Cys missense_variant Unknown - - 23708187 Carvill GL , et al. (2013)
c.3637C>T p.Arg1213Ter stop_gained De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.5222G>C p.Cys1741Ser missense_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.602+1G>A - splice_site_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.1177C>T p.Arg393Cys missense_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.3905dupA p.Asn1302fs frameshift_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.4529C>A p.Ala1510Glu missense_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.2876G>A p.Cys959Tyr missense_variant De novo - - 23934111 Epi4K Consortium , et al. (2013)
c.3497A>C p.Gln1166Arg missense_variant Familial Paternal Multiplex 23999528 Toma C , et al. (2013)
c.4612G>A p.Val1538Ile missense_variant Unknown - Unknown 24066114 Koshimizu E , et al. (2013)
c.4926G>C p.Arg1642Ser missense_variant De novo - - 25363760 De Rubeis S , et al. (2014)
c.5732T>G p.Ile1911Ser missense_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
- - nonsynonymous_variant Unknown - Unknown 25549968 Li J , et al. (2015)
c.4547C>A p.Ser1516Ter stop_gained De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.2134C>T p.Arg712Ter stop_gained De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.4942C>T p.Arg1648Cys missense_variant De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.2589+3A>T - intron_variant De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.3733C>T p.Arg1245Ter stop_gained De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.659T>A p.Val220Asp missense_variant De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.3372delT p.Phe1124LeufsTer4 frameshift_variant De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.2488G>T p.Glu830Ter stop_gained De novo - Simplex 26544041 Zhang Y , et al. (2015)
c.602+1G>A - splice_site_variant Unknown - Unknown 26637798 D'Gama AM , et al. (2015)
c.4319C>T p.Ala1440Val missense_variant Unknown - Multiplex or multi-generational 26637798 D'Gama AM , et al. (2015)
c.1811G>A p.Arg604His missense_variant Familial Maternal Simplex 26845707 Alvarez-Mora MI , et al. (2016)
c.2189T>G;c.2097T>G - 2KB_upstream_variant Familial Maternal - 26969601 Gao QW , et al. (2016)
- - copy_number_loss De novo - - 27113213 Fry AE , et al. (2016)
c.283_286dup p.Gly96GlufsTer24 frameshift_variant De novo - - 27113213 Fry AE , et al. (2016)
c.301C>T p.Arg101Trp missense_variant De novo - - 27113213 Fry AE , et al. (2016)
c.393C>G p.Ser131Arg missense_variant Familial Maternal Multi-generational 27113213 Fry AE , et al. (2016)
c.5005G>A p.Ala1669Thr missense_variant De novo - - 27113213 Fry AE , et al. (2016)
c.[5501C>T];[5501C>T] p.[Ala1834Val];[Ala1834Val] missense_variant;missense_variant Familial - Extended multiplex 27457812 Riazuddin S , et al. (2016)
c.4834G>A p.Val1612Ile missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
- - inversion De novo - - 27841880 Redin C , et al. (2016)
c.1261G>A p.Val421Met missense_variant De novo - Simplex 27848944 Trujillano D , et al. (2016)
c.1848G>C p.Glu616Asp missense_variant Familial Maternal Multi-generational 27864847 Parrini E , et al. (2016)
c.568T>C p.Trp190Arg missense_variant Unknown Not maternal - 27864847 Parrini E , et al. (2016)
c.682T>C p.Ser228Pro missense_variant De novo - - 27864847 Parrini E , et al. (2016)
c.603-2A>G p.? splice_site_variant De novo - - 27864847 Parrini E , et al. (2016)
c.4934G>A p.Arg1645Gln missense_variant De novo - - 27864847 Parrini E , et al. (2016)
c.4820_4821del p.Phe1607Ter frameshift_variant De novo - - 27864847 Parrini E , et al. (2016)
c.4814A>T p.Asn1605Ile missense_variant De novo - - 27864847 Parrini E , et al. (2016)
c.3690dupT p.Ser1231Ter frameshift_variant De novo - - 27864847 Parrini E , et al. (2016)
CTG>C - frameshift_variant De novo - Simplex 28263302 C Yuen RK , et al. (2017)
c.3671delT p.Leu1224Argfs frameshift_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.3637C>T p.Arg1213Ter stop_gained De novo - - 28554332 Bowling KM , et al. (2017)
c.3969+2451G>C - intron_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.5726C>T p.Thr1909Ile missense_variant De novo - - 28708303 Chrot E , et al. (2017)
c.2248T>C p.Cys750Arg missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.3308T>C p.Met1103Thr missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.5449C>T p.Pro1817Ser missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.437C>A p.Thr146Lys missense_variant De novo - Simplex 28940097 Anazi S , et al. (2017)
c.1006T>G p.Cys336Gly missense_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.664C>T p.Arg222Ter stop_gained De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.2862+1G>T;c.2913+1G>T;c.2946+1G>T p.? splice_site_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.5234C>A;c.5285C>A;c.5318C>A p.Ser1745Tyr;p.Ser1762Tyr;p.Ser1773Tyr missense_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.2629G>C;c.2680G>C;c.2713G>C p.Ala877Pro;p.Ala894Pro;p.Ala905Pro missense_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.2050C>T;c.2101C>T;c.2134C>T p.Arg684Ter;p.Arg701Ter;p.Arg712Ter stop_gained De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.602+3_602+6delAAGT p.? splice_site_variant De novo - - 29286531 Tumien B , et al. (2017)
c.622_657delinsT p.Asp208fs frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.3430-3C>G p.? splice_site_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.5193delA p.Ile1733fs frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.5348C>T p.Ala1783Val missense_variant De novo - - 29460957 de Lange IM , et al. (2018)
- - copy_number_loss De novo - - 29460957 de Lange IM , et al. (2018)
c.982insG p.Glu328fs frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.980T>G p.Leu327Arg missense_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.1537delG p.Glu513fs frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.992delT p.Leu331Ter frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
c.4262_4275del14 p.Gly1421fs frameshift_variant De novo - - 29460957 de Lange IM , et al. (2018)
Common Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.-142+26807G>T Minor allele, A intron_variant - - - 24014518 Kasperaviciute D , et al. (2013)
c.-142+26807G>T Minor allele, A intron_variant - - - 24014518 Kasperaviciute D , et al. (2013)
c.264+3440A>G - intron_variant - - - 24014518 Kasperaviciute D , et al. (2013)
SFARI Gene score
3S

Suggestive Evidence, Syndromic

3S

Score Delta: Increased from 3S to 4.4 + acc2 + S

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

10/1/2017
3S
icon
3S

Increased from 3S to 3S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.). De novo variants in SCN1A, including multiple missense variants that were predicted to be damaging and one likely gene-disruptive variant, have been identified in ASD probands (O'Roak et al., 2011; O'Roak et al., 2012; O'Roak et al., 2012; De Rubeis et al., 2014; Yuen et al., 2017)

7/1/2017
3S
icon
3S

Increased from 3S to 3S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.). De novo variants in SCN1A, including multiple missense variants that were predicted to be damaging and one likely gene-disruptive variant, have been identified in ASD probands (O'Roak et al., 2011; O'Roak et al., 2012; O'Roak et al., 2012; De Rubeis et al., 2014; Yuen et al., 2017)

4/1/2017
S
icon
3S

Increased from S to 3S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.). De novo variants in SCN1A, including multiple missense variants that were predicted to be damaging and one likely gene-disruptive variant, have been identified in ASD probands (O'Roak et al., 2011; O'Roak et al., 2012; O'Roak et al., 2012; De Rubeis et al., 2014; Yuen et al., 2017)

Reports Added
[SCN1A testing for epilepsy: application in clinical practice.2013] [A Point Mutation in SCN1A 5' Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by...2016] [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.2016] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.2012] [Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.2012] [Generalized epilepsy with febrile seizure plus (GEFS) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.2012] [Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013] [The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.2016] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.2016] [Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.2016] [De novo mutations in epileptic encephalopathies.2013] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.2012] [Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.2013] [Incorporating Functional Information in Tests of Excess De Novo Mutational Load.2015] [Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.2015] [Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.2013] [CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.2016] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017] [Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS.2000] [De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.2001] [Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.2011] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.2006] [Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.2007] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.2016] [Sodium channels SCN1A, SCN2A and SCN3A in familial autism.2003] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.2017] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu...2007] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [Large-scale discovery of novel genetic causes of developmental disorders.2014]
1/1/2017
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

10/1/2016
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

7/1/2016
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

4/1/2016
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

Reports Added
[Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.2012] [Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.2012] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Generalized epilepsy with febrile seizure plus (GEFS) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.2012] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013] [The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.2016] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.2016] [CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.2016] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.2012] [Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.2013] [SCN1A testing for epilepsy: application in clinical practice.2013] [Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.2013] [De novo mutations in epileptic encephalopathies.2013] [Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS.2000] [Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.2011] [De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.2001] [Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.2006] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.2007] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Sodium channels SCN1A, SCN2A and SCN3A in familial autism.2003] [Incorporating Functional Information in Tests of Excess De Novo Mutational Load.2015] [Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.2015] [Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu...2007] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [A Point Mutation in SCN1A 5' Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by...2016]
1/1/2016
S
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S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

Reports Added
[Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.2012] [Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.2012] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Generalized epilepsy with febrile seizure plus (GEFS) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.2012] [CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.2016] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013] [The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.2016] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [De novo mutations in epileptic encephalopathies.2013] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.2012] [Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.2013] [SCN1A testing for epilepsy: application in clinical practice.2013] [Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.2013] [Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS.2000] [Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.2011] [De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.2001] [Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.2006] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.2007] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Sodium channels SCN1A, SCN2A and SCN3A in familial autism.2003] [Incorporating Functional Information in Tests of Excess De Novo Mutational Load.2015] [Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.2015] [Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu...2007] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [Large-scale discovery of novel genetic causes of developmental disorders.2014]
7/1/2015
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

Reports Added
[Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.2012] [Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.2012] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Generalized epilepsy with febrile seizure plus (GEFS) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.2012] [Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013] [De novo mutations in epileptic encephalopathies.2013] [SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.2012] [Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.2013] [SCN1A testing for epilepsy: application in clinical practice.2013] [Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.2013] [Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS.2000] [De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.2001] [Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.2006] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.2007] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Sodium channels SCN1A, SCN2A and SCN3A in familial autism.2003] [Incorporating Functional Information in Tests of Excess De Novo Mutational Load.2015] [Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu...2007] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [Large-scale discovery of novel genetic causes of developmental disorders.2014]
1/1/2015
S
icon
S

Increased from S to S

Description

Mutations appear to give rise to Dravet Syndrome as well as distinct epilepsy-related disorders and also migraine. Missense mutations were observed in cases from multiple unrelated families, one of which presented with seizures and Asperger Syndrome (asymptomatic carriers were also seen in families, but missense variants were not observed in any of 304 controls (Osaka H et al.). Autism seems to be common amongst individuals with Dravet Syndrome but the report does not give a frequency for the 20 individuals studied (Wolff M et al.). Rare missense variants were observed in 4/299 AGRE families but none of 96 controls, and one of these variants was found previously in a child with juvenile myoclonic epilepsy (Weiss LA et al.).

Krishnan Probability Score

Score 0.50669698524454

Ranking 1880/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.99999999953539

Ranking 87/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Iossifov Probability Score

Score 0.957

Ranking 76/239 scored genes


[Show Scoring Methodology]
Supplementary dataset S2 in the paper by Iossifov et al. (PNAS 112, E5600-E5607 (2015)) lists 239 genes with a probability of at least 0.8 of being associated with autism risk (column I). This probability metric combines the evidence from de novo likely-gene- disrupting and missense mutations and assesses it against the background mutation rate in unaffected individuals from the University of Washington’s Exome Variant Sequence database (evs.gs.washington.edu/EVS/). The list of probability scores can be found here: www.pnas.org/lookup/suppl/doi:10.1073/pnas.1516376112/- /DCSupplemental/pnas.1516376112.sd02.xlsx
Sanders TADA Score

Score 0.12693194285863

Ranking 76/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Zhang D Score

Score 0.11455033178404

Ranking 5831/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
CNVs associated with SCN1A(1 CNVs)
2q24.3 11 Deletion 22  /  95
Animal Models associated with SCN1A(19 Models)
SCN1A_10_cKO_HT-SSTN 1 Genetic Mus musculus
SCN1A_11_cKO_HT-PVN_SSTN 1 Genetic Mus musculus
SCN1A_12_cKO_HT-PVN 1 Genetic Mus musculus
SCN1A_13_cKO_HT-SSTN 1 Genetic Mus musculus
SCN1A_14_cKO_HT-PVN_SSTN 1 Genetic Mus musculus
SCN1A_15_cKO_HM-PVN 1 Genetic Mus musculus
SCN1A_16_cKO_HM-SSTN 1 Genetic Mus musculus
SCN1A_17_cKO_HM-PVN_SSTN 1 Genetic Mus musculus
SCN1A_1_R1407X_KI_HM 1 Genetic Mus musculus
SCN1A_2_R1407X_KI_HT 1 Genetic Mus musculus
SCN1A_3_R1407X_KI_HM 1 Genetic Mus musculus
SCN1A_4_R1407X_KI_HT 1 Genetic Mus musculus
SCN1A_5_KO_HM 1 Genetic Mus musculus
SCN1A_6_KO_HT 2 Genetic Mus musculus
SCN1A_6_KO_HT_Clonazepam 1 RESCUE-Pharmaceutical Mus musculus
SCN1A_6_KO_HT_CLZ RESCUE-Pharmaceutical Mus musculus
SCN1A_7_R1648H_HT 1 Genetic Mus musculus
SCN1A_8_CN_KO_HT 1 Genetic Mus musculus
SCN1A_9_cKO_HT-PVN 1 Genetic Mus musculus
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