Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.( Ala106Thr ) gain‐of‐function variant: Structural and phenotypic insights
Year: 2025
Type: article
Study design: Observational Study
Source: Epilepsia
DOI: 10.1111/epi.70045
Authors: Sebastian Ortiz, Chiara Bagliani, Susan X. N. Lin, Ali S. Kusay, Katri Silvennoinen, Reetta Kälviäinen, Leena Jutila, Anni Saarela, Rebekka S. Dahl, Tommy Stödberg, Carla Marini, Elisabetta Cesaroni, Francesca Bisulli, Laura Licchetta, Elisa Fallica, Tommaso Lo Barco, Francesca Torta, Valentina Rizzo, Felipe Castro‐Villablanca, Megan Yabumoto, Ghayda Mirzaa, Alessandra Rossi, Christian Laugaard‐Jacobsen, Lino Nobili, Sara I. Liin, Elena Gardella, Philip K. Ahring, Rikke S. Møller, Guido Rubboli
Institutions: University of Southern Denmark, Istituto Giannina Gaslini, University of Genoa, University of Copenhagen, The University of Sydney, Linköping University, University of Eastern Finland, Kuopio University Hospital, Karolinska University Hospital, Karolinska Institutet, Azienda Ospedaliero-Universitaria delle Marche, Istituto delle Scienze Neurologiche di Bologna, University of Bologna, University of Ferrara, Azienda Ospedaliera Carlo Poma, Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, University of Verona, Clínica Las Condes, University of Chile, Seattle Children's Hospital, University of Washington, Norcliffe Foundation, Seattle Children's Research Institute, Ospedale San Bassiano, Aalborg University Hospital
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: closed
Funder: Lundbeckfonden
Award: G8103534029
OpenAlex ID: W4417075777