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

• Ngā kaituhi matua: Jaber Lyahyai (Author), Bouchra Ouled Amar Bencheikh (Author), Siham C. Elalaoui (Author), Maria Mansouri (Author), Lamia Boualla (Author), Alexandre DIonne-Laporte (Author), Dan Spiegelman (Author), Patrick A. Dion (Author), Patrick Cossette (Author), Guy A. Rouleau (Author), Abdelaziz Sefiani (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2018-02-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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....