Channelpedia

PubMed 11167897


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1



Title: Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.

Authors: J Haan, E E Kors, G M Terwindt, F L Vermeulen, M N Vergouwe, A M van den Maagdenberg, D S Gill, J Pascual, R A Ophoff, R R Frants, Ferrari

Journal, date & volume: Cephalalgia, 2000 Oct , 20, 696-700

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11167897


Abstract
Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterized by attacks of hemiplegia and mental retardation. It has been often associated with migraine. The CACNA1A gene on chromosome 19 is involved in familial hemiplegic migraine and other episodic cerebral disorders, but also with progressive neuronal damage.We performed mutation analysis in this gene in four AHC patients, using single strand conformation polymorphism analysis.We found nine polymorphisms, but no mutations in any of the 47 exons.Other cerebral ion channel genes remain candidate genes for AHC.