A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to vitamin B6 treatment. Whole exome sequencing of...

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Detalles Bibliográficos
Autores principales: Pal, Maitou, Lace, Baiba, Labrie, Yvan, Laflamme, Nathalie, Rioux, Nadie, Setty, Samarth Thonta, Dugas, Marc‐Andre, Gosselin, Louise, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100403/
https://www.ncbi.nlm.nih.gov/pubmed/33977028
http://dx.doi.org/10.1002/jmd2.12196

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