Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202151337
rs202151337
SCN8A
0.020 GeneticVariation BEFREE A knock-in mouse model carrying the patient mutation p.Asn1768Asp (N1768D) reproduces many features of the disorder, including spontaneous seizures and SUDEP. 28676574

2017
dbSNP: rs202151337
rs202151337
SCN8A
0.020 GeneticVariation BEFREE Heterozygous Scn8a(N1768D/+) mice exhibit seizures and SUDEP, confirming the causality of the de novo mutation in the proband. 25227913

2015