Genetic Variants Associated with Episodic Ataxia in Korea

Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Wh...

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Detalles Bibliográficos
Autores principales: Choi, Kwang-Dong, Kim, Ji-Soo, Kim, Hyo-Jung, Jung, Ileok, Jeong, Seong-Hae, Lee, Seung-Han, Kim, Dong Uk, Kim, Sang-Ho, Choi, Seo Young, Shin, Jin-Hong, Kim, Dae-Seong, Park, Kyung-Pil, Kim, Hyang-Sook, Choi, Jae-Hwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653837/
https://www.ncbi.nlm.nih.gov/pubmed/29062094
http://dx.doi.org/10.1038/s41598-017-14254-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653837/
https://www.ncbi.nlm.nih.gov/pubmed/29062094
http://dx.doi.org/10.1038/s41598-017-14254-7

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