Journal article

Susceptibility genes for complex epilepsy

JC Mulley, IE Scheffer, LA Harkin, SF Berkovic, LM Dibbens

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2005

Abstract

Common idiopathic epilepsies are, clinically and genetically, a heterogeneous group of complex seizure disorders. Seizures arise from periodic neuronal hyperexcitability of unknown cause. The genetic component is mostly polygenic, where each susceptibility gene in any given individual is likely to represent a small component of the total heritability. Two susceptibility genes have been so far identified, where genetic variation is associated with experimentally demonstrated changes in ion channel properties, consistent with seizure susceptibility. Rare variants and a polymorphic allele of the T-type calcium channel CACNA1H and a polymorphic allele and a rare variant of the GABA(A) receptor d..

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