Early neurological symptoms and epilepsy outcomes in individuals with the recurrent <scp> <i>GABRG2</i> </scp> p.( <scp>Ala106Thr</scp> ) gain‐of‐function variant: Structural and phenotypic insights
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Sebastian Ortiz
raw_affiliation_strings: Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark
Instituto Roosevelt  Bogotá Colombia
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
raw_author_name: Chiara Bagliani
raw_affiliation_strings: Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini, member of European Reference Network EpiCARE  Genoa Italy
Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, member of European Reference Network EpiCARE, Genoa, Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
raw_author_name: Susan X. N. Lin
raw_affiliation_strings: Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Sydney New South Wales Australia
Department of Neuroscience University of Copenhagen  Copenhagen Denmark
Department of Neuroscience, University of Copenhagen, Copenhagen, Denmark
Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
raw_author_name: Ali S. Kusay
raw_affiliation_strings: Department of Biomedical and Clinical Sciences Linköping University  Linköping Sweden
raw_author_name: Katri Silvennoinen
raw_affiliation_strings: Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences University of Eastern Finland  Kuopio Finland
Kuopio Epilepsy Center, Neurology, Neurocenter Kuopio University Hospital, member of European Reference Network EpiCARE  Kuopio Finland
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland
Kuopio Epilepsy Center, Neurology, Neurocenter, Kuopio University Hospital, member of European Reference Network EpiCARE, Kuopio, Finland
raw_author_name: Reetta Kälviäinen
raw_affiliation_strings: Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences University of Eastern Finland  Kuopio Finland
Kuopio Epilepsy Center, Neurology, Neurocenter Kuopio University Hospital, member of European Reference Network EpiCARE  Kuopio Finland
Kuopio Epilepsy Center, Neurology, Neurocenter, Kuopio University Hospital, member of European Reference Network EpiCARE, Kuopio, Finland
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland
raw_author_name: Leena Jutila
raw_affiliation_strings: Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences University of Eastern Finland  Kuopio Finland
Kuopio Epilepsy Center, Neurology, Neurocenter Kuopio University Hospital, member of European Reference Network EpiCARE  Kuopio Finland
Kuopio Epilepsy Center, Neurology, Neurocenter, Kuopio University Hospital, member of European Reference Network EpiCARE, Kuopio, Finland
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland
raw_author_name: Anni Saarela
raw_affiliation_strings: Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences University of Eastern Finland  Kuopio Finland
Kuopio Epilepsy Center, Pediatric Neurology Kuopio University Hospital, member of European Reference Network EpiCARE  Kuopio Finland
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland
Kuopio Epilepsy Center, Pediatric Neurology, Kuopio University Hospital, member of European Reference Network EpiCARE, Kuopio, Finland
raw_author_name: Rebekka S. Dahl
raw_affiliation_strings: Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
raw_author_name: Tommy Stödberg
raw_affiliation_strings: Department of Child Neurology Karolinska University Hospital  Stockholm Sweden
Department of Women's and Children's Health Karolinska Institutet  Stockholm Sweden
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden
raw_author_name: Carla Marini
raw_affiliation_strings: Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi Azienda Ospedaliero‐Universitaria Delle Marche  Ancona Italy
Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria Delle Marche, Ancona, Italy
raw_author_name: Elisabetta Cesaroni
raw_affiliation_strings: Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi Azienda Ospedaliero‐Universitaria Delle Marche  Ancona Italy
Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria Delle Marche, Ancona, Italy
raw_author_name: Francesca Bisulli
raw_affiliation_strings: Department of Biomedical and Neuromotor Sciences University of Bologna  Bologna Italy
IRCCS Istituto Delle Scienze Neurologiche di Bologna full member of European Reference Network EpiCARE  Bologna Italy
IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
raw_author_name: Laura Licchetta
raw_affiliation_strings: IRCCS Istituto Delle Scienze Neurologiche di Bologna full member of European Reference Network EpiCARE  Bologna Italy
IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy
raw_author_name: Elisa Fallica
raw_affiliation_strings: Neurology Unit University Hospital of Ferrara  Ferrara Italy
Neurology Unit, University Hospital of Ferrara, Ferrara, Italy
raw_author_name: Tommaso Lo Barco
raw_affiliation_strings: Epilepsy Center C. Poma Hospital  Mantua Italy
Epilepsy Center, C. Poma Hospital, Mantua, Italy
raw_author_name: Francesca Torta
raw_affiliation_strings: SSD Neurologia Pediatrica AOU Città Della Salute e Della Scienza di Torino  Turin Italy
raw_author_name: Valentina Rizzo
raw_affiliation_strings: Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics University of Verona  Verona Italy
Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark
Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics, University of Verona, Verona, Italy
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
raw_author_name: Felipe Castro‐Villablanca
raw_affiliation_strings: Advanced Epilepsy Center Clínica Las Condes  Santiago Chile
Department of Pediatrics University of Chile  Santiago Chile
Department of Pediatrics, University of Chile, Santiago, Chile
raw_author_name: Megan Yabumoto
raw_affiliation_strings: Division of Genetic Medicine Seattle Children's Hospital  Seattle Washington USA
Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA
raw_author_name: Ghayda Mirzaa
raw_affiliation_strings: Department of Laboratory Medicine and Pathology University of Washington School of Medicine  Seattle Washington USA
Department of Pediatrics University of Washington School of Medicine  Seattle Washington USA
Norcliffe Foundation Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA
Department of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, Washington, USA
Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA
raw_author_name: Alessandra Rossi
raw_affiliation_strings: Pediatric Unit San Bassano Hospital  Bassano del Grappa Italy
Pediatric Unit, San Bassano Hospital, Bassano del Grappa, Italy
raw_author_name: Christian Laugaard‐Jacobsen
raw_affiliation_strings: Pediatrics Department Aalborg University Hospital, Aalborg University  Aalborg Denmark
Pediatrics Department, Aalborg University Hospital, Aalborg University, Aalborg, Denmark
raw_author_name: Lino Nobili
raw_affiliation_strings: Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini, member of European Reference Network EpiCARE  Genoa Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, member of European Reference Network EpiCARE, Genoa, Italy
raw_author_name: Sara I. Liin
raw_affiliation_strings: Department of Biomedical and Clinical Sciences Linköping University  Linköping Sweden
raw_author_name: Elena Gardella
raw_affiliation_strings: Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
raw_author_name: Philip K. Ahring
raw_affiliation_strings: Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Sydney New South Wales Australia
Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
raw_author_name: Rikke S. Møller
raw_affiliation_strings: Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
raw_author_name: Guido Rubboli
raw_affiliation_strings: Advanced Epilepsy Center Clínica Las Condes  Santiago Chile
Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, member of European Reference Network EpiCARE  Dianalund Denmark
Institute of Clinical Medicine University of Copenhagen  Copenhagen Denmark
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark
Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark