A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Mov Disord
; 24(5): 778-82, 2009 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-19205071
ABSTRACT
Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage-gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dysfunction, cerebellar atrophy, and cognitive delay. All affected family members have myokymia and epilepsy, but only one individual has episodes of vertigo. Additional features include postural abnormalities, episodic stiffness and weakness. A novel KCNA1 mutation (c.1222G>T) which replaces a highly conserved valine with leucine at position 408 (p.Val408Leu) was identified in affected family members, and was found to augment the ability of the channel to inactivate. Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Cerebelares
/
Predisposição Genética para Doença
/
Canal de Potássio Kv1.1
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Animals
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Canadá