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

Abstract 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...

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Bibliographic Details
Main Authors: Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Epilepsia Open
Subjects:
Online Access:https://doi.org/10.1002/epi4.12431