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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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Библиографические подробности
Опубликовано в: :Epilepsia Open
Главные авторы: Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2021
Предметы:
Online-ссылка: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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