Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia et autres
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 …
at, us (code pays fourni par la source)
0 citations
Open Access CRIS of the University of Bern