Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family

Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium c...

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Detalles Bibliográficos
Autores principales: Kim, Jeong-Min, Kim, Ji Soo, Ki, Chang-Seok, Jeon, Beom-Seok
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2006
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854978/
https://www.ncbi.nlm.nih.gov/pubmed/20396531
http://dx.doi.org/10.3988/jcn.2006.2.4.268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854978/
https://www.ncbi.nlm.nih.gov/pubmed/20396531
http://dx.doi.org/10.3988/jcn.2006.2.4.268

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