Article
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.
Epilepsia - 1 Jul 2026
Gverdtsiteli Sopio, Ortiz Sebastian, Brünger Tobias, Furia Francesca, Barba Carmen, Bjørg-Hammer Trine, Borggraefe Ingo, Caraballo Roberto, Cirak Sebahattin, Espeche Alberto, Fazeli Walid, Guerrini Renzo, Juanes Matias, Kassahn Karin, Kinali Maria, Krämer Johannes, Kröll Judith, Herrero Maria Concepción Miranda, Oegema Renske, Ounap Katrin, Peñuela Oscar, Platzer Konrad, Prasad Asuri Narayan, Pujol Aurora, Reinson Karit, Represa Alfonso, Roza Eugenia, Valenzuela Gabriela Reyes, Rodríguez-Palmero Agustí, Sallevelt Suzanne, Sanchez-Albiusa Maria Iciar, Scheffer Ingrid E, Smid Cory, Stafstrom Carl E, Stattin Eva-Lena, Suarez Jen R, Syrbe Steffen, Valente Kette D, Wagner Matias, Wortmann Saskia, Gardella Elena, Lal Dennis, Brunklaus Andreas, Møller Rikke S
Abstract excerpt
OBJECTIVE: Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain-of-function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A-, SCN3A-, and SCN8A-related developmental and epileptic encephalopathy. Here, we investigated whether NDEEMA occurs in...
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