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Idiopathic generalized epilepsies

Definition:

Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.

References:

[1]. A Escayg, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. [Content Brief]

[2]. Ashish Kapoor, et al. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. [Content Brief]

[3]. Carla Marini, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004 May;45(5):467-78. [Content Brief]

[4]. Gabrielle Rudolf, et al. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. [Content Brief]

[5]. Karsten Haug, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 2003 Apr;33(4):527-32. [Content Brief]

[6]. Kristopher T Kahle, et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep. 2014 Jul;15(7):766-74. [Content Brief]

[7]. Leanne M Dibbens, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. [Content Brief]

[8]. Pamela Lachance-Touchette, et al. Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. Eur J Neurosci. 2011 Jul;34(2):237-49. [Content Brief]

[9]. Sarah E Heron, et al. Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol. 2004 Apr;55(4):595-6. [Content Brief]

[10]. Todor Arsov, et al. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol. 2012 Nov;72(5):807-15. [Content Brief]

[11]. Xia Li, et al. De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. Eur J Hum Genet. 2018 Feb;26(2):220-229. [Content Brief]

[12]. Yvonne G Weber, et al. Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol. 2008 Sep;50(9):648-54. [Content Brief]

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