Diverse faces of GNAO1: mild forms in epilepsy and autism.

Autor: Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA., Soliani L; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Marchiani V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy., Gorría-Redondo N; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu., Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.; U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain. juandario.ortigoza@sjd.es.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 3777-3781. Date of Electronic Publication: 2024 May 10.
DOI: 10.1007/s00415-024-12418-w
Databáze: MEDLINE