Fiche publication
Date publication
juillet 2025
Journal
Neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PHILIPPE Christophe
Tous les auteurs :
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK
Lien Pubmed
Résumé
Variants in the gene encoding the γ2 subunit of the γ-aminobutyric acid type A (GABA) receptor are associated with a spectrum of epilepsy phenotypes. These range from simple febrile seizures to more severe conditions, including developmental and epileptic encephalopathies (DEEs). Despite previous analyses suggesting that pathogenic variants may lead to loss-of-function (LoF) receptors, a correlation between functional analysis and clinical phenotypic diversity remains elusive. We, therefore, aimed to determine why variants in the gene can lead to highly diverse phenotypes.
Mots clés
Humans, Receptors, GABA-A, genetics, Female, Male, Phenotype, Child, Child, Preschool, Loss of Function Mutation, genetics, Infant, Adolescent, Gain of Function Mutation, genetics, Epilepsy, genetics, Mutation, Missense, Adult, Cohort Studies, Young Adult, Seizures, Febrile, genetics
Référence
Neurology. 2025 07 22;105(2):e213644
