Phenotypic Spectrum in Individuals with Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Nazanin A Mohammadi, Sindhu Viswanathan, Tommy Stödberg,Alberto Danieli, Paolo Bonanni,Alec Aeby,Alessandro Orsini,Alice Bonuccelli, Andrea Rüegger,Beatriz G Giraldez,Bertrand Isidor, Burkhard Stüve,Carla Marini, Elisabetta Cesaroni, Christina D Fenger, Christophe Philippe, Colombine Meunier,Damien Lederer, Stéphanie Moortgat, Egidio Spinelli,Elisa Fallica, Fiona Zeiner, Matthias Bauman,Laura Licchetta,Francesca Bisulli, Francesca F Operto, Ira Benkel-Herrenbrueck, Kathleen M Gorman,Katrine M Johannesen,Konrad Platzer, Franziska Schnabel,Lieven Lagae, Mirjam Laufs,Riina Zordania, Stephen Malone,Tullio Messana, Wendy Werckx, Charlotta Jonsson,Zaid Afawi,Thomas Foiadelli, Yosra Halleb,Radka Stoeva, Mélanie Jennesson-Lyver,Gaetan Lesca,Renzo Guerrini, Samuel F Berkovic, Ingrid E Scheffer, Mary Chebib,Elena Gardella,Rikke S Møller,Guido Rubboli,Philip K Ahring Neurology（2025）
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