Publication: Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
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Objective: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making...
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Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882
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