{{Rsnum
|rsid=121918625
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SCN1A
|position=166036521
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LOC102724058,SCN1A
}}{{omim
|id=182389
|rsnum=121918625
|variant=0009
}}
{{omim
|id=607208
|rsnum=121918625
}}{{ClinVar
|rsid=121918625
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=166893031
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SCN1A:6323
|GENE_NAME=SCN1A
|GENE_ID=6323
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.166893031G>A
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=182389.0009; VAR_014268
|CLNSIG=5
|CLNCUI=C0751122
|CLNDBN=Severe myoclonic epilepsy in infancy
|Disease=Severe myoclonic epilepsy in infancy
|CLNACC=RCV000032605.17
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1318:C0751122:607208:33069:230437002
}}{{PMID|11359211|OA=1
}} De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

{{PMID|14672992}} Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.