Abstract
Idiopathic generalized epilepsies (IGEs) are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities and are believed to have a genetic basis. Mutations in γ-aminobutyric acid (GABAA) receptor γ2-, α1-, and δ-subunits have been associated with different IGE syndromes, and all of the γ2-subunit mutations are also associated with febrile seizures. Here, mutations in GABAA receptor γ2-, α1-, and δ-subunits that have been associated with different IGE syndromes will be reviewed and the basis for the defect in GABAergic inhibition associated with febrile seizures will be explored. These mutations have been shown to alter GABAA receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in reduced GABA-evoked currents that, in turn, would cause neuronal disinhibition in neurons and thus predispose affected patients to manifest afebrile and febrile seizures.
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Macdonald, R.L., Kang, JQ., Gallagher, M.J., Feng, HJ. (2007). GABAA-Receptor Mutations Associated With Idiopathic Generalized Epilepsies and Febrile Seizures. In: Enna, S.J., Möhler, H. (eds) The GABA Receptors. The Receptors. Humana Press. https://doi.org/10.1007/978-1-59745-465-0_6
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DOI: https://doi.org/10.1007/978-1-59745-465-0_6
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