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

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

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....

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Bibliographic Details
Main Authors: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Pediatrics
Subjects:
Missense mutation
PLP1 gene
Connatal Pelizaeus-Merzbacher disease
Online Access:http://link.springer.com/article/10.1186/s12887-018-1063-5

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http://link.springer.com/article/10.1186/s12887-018-1063-5

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