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Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

par Rossi, Alessandra;Lin, Susan X N;Absalom, Nathan NL;Ortiz-De la Rosa, Sebastian;Liao, Vivian VWY;Mohammadi, Nazanin NA;Viswanathan, Sindhu;Stödberg, Tommy;Danieli, Alberto;Bonanni, Paolo;Aeby, Alec ;Orsini, Alessandro;Bonuccelli, Alice;Rüegger, Andrea;Giraldez, Beatriz BG;Isidor, Bertrand;Stüve, Burkhard;Marini, Carla;Cesaroni, Elisabetta;Fenger, Christina D;Philippe, Christophe;Meunier, Colombine;Lederer, Damien;Moortgat, Stephanie;Spinelli, Egidio;Fallica, Elisa;Zeiner, Fiona;Bauman, Matthias;Licchetta, Laura;Bisulli, Francesca;Operto, Francesca FF;Benkel-Herrenbrueck, Ira;Gorman, Kathleen KM;Johannesen, Katrine KM;Platzer, Konrad;Schnabel, Franziska;Lagae, Lieven;Laufs, Mirjam;Zordania, Riina;Malone, Stephen;Messana, Tullio;Werckx, Wendy;Jonsson, Charlotta;Afawi, Zaid;Foiadelli, Thomas;Halleb, Yosra;Stoeva, Radka;Jennesson-Lyver, Mélanie;Lesca, Gaetan;Guerrini, Renzo;Berkovic, Samuel F;Scheffer, Ingrid E;Chebib, Mary;Gardella, Elena;Møller, Rikke Steensbjerre;Rubboli, Guido;Ahring, Philip PK
Référence Neurology, 105, 2, page (e213644)
Publication Publié, 2025-07

Article révisé par les pairs

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Résumé :

Variants in the GABRG2 gene encoding the γ2 subunit of the γ-aminobutyric acid type A (GABAA) 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 GABRG2 gene can lead to highly diverse phenotypes.