John Libbey Eurotext

The epilepsy-movement disorder phenotypic spectrum and phenytoin-induced dyskinesia associated with GABRB3 pathogenic variants Volume 23, numéro 6, December 2021

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  • The epilepsy-movement disorder phenotypic spectrum and phenytoin-induced dyskinesia associated with GABRB3 pathogenic variants

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Auteurs
1 Division of Pediatric Neurology, Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada
2 McGill University Health Center Research Institute, Montreal, Quebec, Canada
* Correspondence: Myriam Srour 1001 Blvd Décarie, EM0.3218, Montreal, Quebec H4A 3J1, Canada

Gamma-aminobutyric acid (GABA) A receptors are ligand-gated chloride channels responsible for maintaining inhibitory tone in the brain. Heterozygous pathogenic variants in GABRB3, encoding the β3 subunit of the GABAA receptor, have been implicated in several epilepsy syndromes [1]. Since GABAA receptors are critical for excitability regulation, deleterious loss-of-function pathogenic variants can result in GABAergic disinhibition, promote hyperexcitability, and lead to several genetic epilepsies [...]