Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) is caused by heterozygous mutations in the CACNA1I gene with a phenotypic spectrum ranging from borderline intellectual functioning to a severe neurodevelopmental disorder with epilepsy.
El Ghaleb Y, Schneeberger PE, Fernandez-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE
タイトル
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
