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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

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