Article
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Communications biology - 30 May 2022
Berecki Géza, Howell Katherine B, Heighway Jacqueline, Olivier Nelson, Rodda Jill, Overmars Isabella, Vlaskamp Danique R M, Ware Tyson L, Ardern-Holmes Simone, Lesca Gaetan, Alber Michael, Veggiotti Pierangelo, Scheffer Ingrid E, Berkovic Samuel F, Wolff Markus, Petrou Steven
Abstract excerpt
In SCN2A-related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of variants, to identify suitable candidates for precision therapies. Here we classify clinical phenotypes of 179 individuals with 38 recurrent SCN2A variants as early-infantile or later-onset epilepsy, or intellectual disability/autism spectrum disorder (ID/ASD)...
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