paperKB
coga / coga-kb
Help
Sign in

Chunk #25 — SUSCEPTIBILITY LOCI AND GENES OF COMPLEX NEURODEVELOPMENTAL DISORDERS — Epilepsy (Seizure Disorder)

Source
Genetic and environmental factors in complex neurodevelopmental disorders.
Embedded
yes

Text

Epilepsy is a heterogeneous group of disorders with abnormal electrical brain activity. In adults, temporal lobe epilepsy (TLE) is the most common form of epilepsy with an age of onset in late childhood or adolescence. In childhood, the most common form of epilepsy is febrile seizures (FSs), with a prevalence of 2-5% in Western countries and an estimated heritability of 70% [60]. Genetic linkage analyses have identified a number of loci for familial FS, including the loci on chromosome 19p13.3, 2q23-q24, 5q14-q15 and 18p11.2 containing the genes encoding casein kinase I gamma 2 isoform (CSNK1G2; 19p13.3), sodium channel, voltage-gated, type I, alpha subunit (SCN1A; 2q24.3), G protein-coupled receptor 98 (GPR98; 5q13) and inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2; 18p11.2), respectively [61-64]. Although linkage of these loci has been replicated in some other familial cases, only for CSNK1G2 and IMPA2 association was found in subsequent association analysis [64, 65]. In addition, a number of other candidate genes have been identified via association studies, including the genes encoding cholinergic receptor nicotinic alpha 4 (CHRNA4; 20q13.2-q13.3), gamma-aminobutyric acid A receptor gamma 2 (GABRG2; 5q31.1-q33.1) and