Childhood absence epilepsy
Definition:
Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences, which are brief episodes of loss of consciousness. It has been reported that mutations in several genes encoding subunits of the GABAA receptor are associated with this disease.
References:
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[1]. Miyabi Tanaka, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet. 2008 Jun;82(6):1249-61. [Content Brief]
[2]. Yucai Chen, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol. 2003 Aug;54(2):239-43. [Content Brief]
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