Titre:
  • Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Auteur: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
Informations sur la publication:Neurology, 105, 2, page (e213644)
Statut de publication:Publié, 2025-07
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords: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 -- physiopathology
Mutation, Missense
Adult
Cohort Studies
Young Adult
Seizures, Febrile -- genetics -- physiopathology
Langue:Anglais
Identificateurs:urn:issn:0028-3878
info:doi/10.1212/WNL.0000000000213644
info:pmid/40570274
PMC12202131