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...

Descripción completa

Detalles Bibliográficos
Autores principales: Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Preliminary Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918309/
https://www.ncbi.nlm.nih.gov/pubmed/33681666
http://dx.doi.org/10.1002/epi4.12431

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918309/
https://www.ncbi.nlm.nih.gov/pubmed/33681666
http://dx.doi.org/10.1002/epi4.12431

Ejemplares similares