Evaluation of CACNA1H in European patients with childhood absence epilepsy.
نویسندگان
چکیده
CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
منابع مشابه
T-Channel Defects in Patients with Childhood Absence Epilepsy.
Direct sequencing of exons 3 to 35 and the exon–intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and among the variations identified, 12 were missense mutations and found only in 14 of the 118 patients in a heterozygous state, but not in any o...
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Heron and colleagues (Ann Neurol 2004;55:595-596) identified three missense mutations in the Cav3.2 T-type calcium channel gene (CACNA1H) in patients with idiopathic generalized epilepsy. None of the variants were associated with a specific epilepsy phenotype and were not found in patients with juvenile absence epilepsy or childhood absence epilepsy. Here, we introduced and functionally charact...
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Idiopathic absence epilepsies (IAE), that have high prevalence particularly among children and adolescents, are complex disorders mainly caused by genetic factors. Childhood absence epilepsy and juvenile absence epilepsy are among the most common subtypes of IAEs. While the role of ion channels has been the primary focus of epilepsy research, the analysis of mutation and association in both pat...
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Sequencing of the T-type Ca2+ channel gene CACNA1H revealed 12 nonsynonymous single nucleotide polymorphisms (SNPs) that were found only in childhood absence epilepsy (CAE) patients. One SNP, G773D, was found in two patients. The present study reports the finding of a third patient with this SNP, as well as analysis of their parents. Because of the role of T-channels in determining the intrinsi...
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The most common type of childhood-onset epilepsy syndrome is childhood absence epilepsy (CAE) with well-defined electro clinical features but unknown pathological basis. The incidence of absence epilepsy is about 2 and 8 out of every 100 000 children up to the age of 16, and the prevalence is 2 and 10% of children with any form of epilepsy. Children with CAE suffer from high rate of pretreatmen...
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عنوان ژورنال:
- Epilepsy research
دوره 69 2 شماره
صفحات -
تاریخ انتشار 2006