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

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. X-linked...

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Detalles Bibliográficos
Autores principales: Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830319/
https://www.ncbi.nlm.nih.gov/pubmed/29486744
http://dx.doi.org/10.1186/s12887-018-1063-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830319/
https://www.ncbi.nlm.nih.gov/pubmed/29486744
http://dx.doi.org/10.1186/s12887-018-1063-5

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