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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

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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
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0028-3878
	info:doi/10.1212/WNL.0000000000213644
	info:scp/105009873395
	info:pmid/40570274
	PMC12202131