{{Rsnum
|rsid=3812718
|Gene=SCN1A
|Chromosome=2
|position=166053034
|Orientation=plus
|GMAF=0.483
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SCN1A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 21.2 | 49.6 | 29.2
| HCB | 21.2 | 57.7 | 21.2
| JPT | 24.8 | 46.9 | 28.3
| YRI | 47.6 | 42.9 | 9.5
| ASW | 45.6 | 42.1 | 12.3
| CHB | 21.2 | 57.7 | 21.2
| CHD | 22.0 | 43.1 | 34.9
| GIH | 18.0 | 49.0 | 33.0
| LWK | 40.9 | 50.0 | 9.1
| MEX | 46.6 | 39.7 | 13.8
| MKK | 35.3 | 47.4 | 17.3
| TSI | 24.5 | 47.1 | 28.4
| HapMapRevision=28
}}Genetic predictors of the maximum doses patients receive during anti-epileptic drugs carbamazepine and phenytoin

Possible [http://www.gtg.com.au/HumanDNATesting/index.asp?menuid=070.020.050.010 commercial test]

{{omim
|id=182389
|desc=SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
|rsnum=3812718
}}

{{PharmGKB
|RSID=rs3812718
|Name_s=
|Gene_s=SCN1A
|Feature=
|Evidence=PubMed ID:17436242
|Annotation=This SNP is associated with required dose levels of antieptilectic drugs. It affects alternative splicing and hence the proportions of neonate and adult alternative transcripts of SCN1A in adult brain tissue. The effect of the polymorphism appears to be modified by Nova2 expression levels.
|Drugs=carbamazepine; phenytoin
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162168073
}}

{{PMID Auto
|PMID=20477842
|Title=Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy
}}

{{omim
|id=182389
|rsnum=3812718
|variant=0016
}}

{{omim
|id=604403
|rsnum=3812718
}}

{{PMID Auto
|PMID=15805193
|Title=Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.
|OA=1
}}

{{PMID Auto
|PMID=17676998
|Title=Imputation-based analysis of association studies: candidate regions and quantitative traits.
|OA=1
}}

{{PMID Auto
|PMID=19289736
|Title=A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
}}

{{PMID Auto
|PMID=21453355
|Title=SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.
|OA=1
}}

{{PMID Auto
|PMID=21762453
|Title=Replication of association between a SCN1A splice variant and febrile seizures.
}}

{{PMID Auto
|PMID=22292851
|Title=Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population.
}}

{{PMID Auto
|PMID=22569204
|Title=PharmGKB summary: phenytoin pathway.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3812718
|overall_frequency_n=55
|overall_frequency_d=128
|overall_frequency=0.429688
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=51
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23786015
|Title=[Pharmacogenetic criteria drug-resistence epilepsy]
}}

{{PMID Auto
|PMID=24076350
|Title=SCN1A rs3812718 Polymorphism and Susceptibility to Epilepsy with Febrile Seizures: A Meta-analysis
}}

{{PMID Auto
|PMID=22591328
|Title=Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.
}}

{{PMID Auto
|PMID=23466530
|Title=SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness.
}}

{{PMID Auto
|PMID=23752739
|Title=Gender-specific profiling in SCN1A polymorphisms and time-to-recurrence in patients with stage II/III colorectal cancer treated with adjuvant 5-fluoruracil chemotherapy.
}}

{{PMID Auto
|PMID=24337656
|Title=Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}