Article
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
American journal of medical genetics. Part A - 1 Jan 2022
Marco Hernández Ana Victoria, Caro Alfonso, Montoya Filardi Alejandro, Tomás Vila Miguel, Monfort Sandra, Beseler Soto Beatriz, Nieto-Barceló Juan José, Martínez Francisco
Abstract excerpt
Mutations in SPTAN1 gene, encoding the nonerythrocyte αII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disability (ID) or ID with cerebellar syndrome. A certain genotype-phenotype correlation has been proposed according to the type and location of the mutation. Herein, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.