Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

• Autors principals: Jaber Lyahyai (Autor), Bouchra Ouled Amar Bencheikh (Autor), Siham C. Elalaoui (Autor), Maria Mansouri (Autor), Lamia Boualla (Autor), Alexandre DIonne-Laporte (Autor), Dan Spiegelman (Autor), Patrick A. Dion (Autor), Patrick Cossette (Autor), Guy A. Rouleau (Autor), Abdelaziz Sefiani (Autor)
• Format: Llibre
• Publicat: BMC, 2018-02-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contribution and various mode of inheritance....