Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

OBJECTIVE: Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no studies demonstrating an association between...

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Detalhes bibliográficos
Publicado no:Epilepsia Open
Main Authors: Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Preliminary Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7918309/
https://ncbi.nlm.nih.gov/pubmed/33681666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12431
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