Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family
Journal of Clinical Neurology
;
: 268-271, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-224882
ABSTRACT
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 channel, there are few reports of genetically confirmed EA-2 in Korea. In 1998, a Korean family with acetazolamide-responsive hereditary paroxysmal ataxia was reported, but the genetic background was not defined at that time. In the present study we performed direct sequencing of the entire exons and their flanking intronic sequences of the CACNA1A gene and found a deletion mutation (c.2042_2043delAG).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia
/
Íntrons
/
Canais de Cálcio
/
Vertigem
/
Éxons
/
Deleção de Sequência
/
Coreia (Geográfico)
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2006
Tipo de documento:
Artigo
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