Dravet Syndrome was first described in 1978 (Dravet et. al 1978). Dravet syndrome is a severe condition on the genetic epilepsy with febrile seizures plus (GEFS+) spectrum of seizure disorders. Dravet often occurs with loss-of-function variants in SCN1A that arise de novo. SCN1A has been reported in relation to autosomal dominant Dravet Syndrome in numerous publications. Numerous unique variants (missense, frameshift, nonsense, etc.), including the 9 documented here, have been reported in humans (PMIDs: 23808377, 26438699, 30185235, 24412860, 21647847). Evidence supporting this gene-disease pair includes case-level and experimental data. Supporting experimental evidence includes expression, protein interaction, and biochemical function studies as well as mouse models (PMIDs: 16921370, 17537961, 23821540, 16921370, 17928448). More evidence is available in the literature, but the maximum score for genetic and experimental evidence has been reached. In summary, SCN1A is definitively associated with autosomal dominant Dravet Syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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