PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

OBJECTIVE: Vitamin B(6)–dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1,PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B(6)–dependent epilepsies. Our objective was to furt...

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Detalhes bibliográficos
Publicado no:Epilepsia Open
Main Authors: Shiraku, Hiroshi, Nakashima, Mitsuko, Takeshita, Saoko, Khoo, Chai‐Soon, Haniffa, Muzhirah, Ch'ng, Gaik‐Siew, Takada, Kazuma, Nakajima, Keisuke, Ohta, Masayasu, Okanishi, Tohru, Kanai, Sotaro, Fujimoto, Ayataka, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Full‐length Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6276781/
https://ncbi.nlm.nih.gov/pubmed/30525118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12272
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