Article
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Neurology - 15 Mar 2022
Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Dennis
Abstract excerpt
BACKGROUND AND OBJECTIVES: Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; and the milder genetic epilepsy with febrile seizures plus (GEFS+),...
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