Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
Caroline Neuray(Paracelsus Medical University), Eleni Zamba Papanicolaou, Wyatt W. Yue(Energy Biosciences Institute), Wolfgang Nachbauer(Centre National de la Recherche Scientifique), Masoumeh Heidari Feizabadi(Mashhad University of Medical Sciences), Gabriella Di Rosa(University of Messina), Barbara Garavaglia, Simona Portaro, Alfons Macaya Ruiz, Leigh deHoll(Medical University of South Carolina), Stéphanie Efthymiou(Queen Mary University of London), Marcello Scala(Hospital for Sick Children), G. Shashidhar Pai(Medical University of South Carolina), Belén Pérez‐Dueñas(Vall d'Hebron Hospital Universitari), Benigno Monteagudo Sanchez, Zaynab Khazaei, Michel D. Ferrari(Leiden University), M. Natalia Zanetti(Epilepsy Research UK), Heba El Khashab(Ain Shams University Hospital), Hadil Kathom, Gian Luigi Marseglia(University of Pavia), Jun Mine(Cukurova University), Stanislav Groppa(National Hospital for Neurology and Neurosurgery), Jatinder S. Goraya(Centogene (Germany)), Sylvia Boesch(Innsbruck Medical University), Radka Tincheva(National Hospital for Neurology and Neurosurgery), Oscar D. Bello(Yale University), Majid Mojarrad(Mashhad University of Medical Sciences), Eugenia Borgione(Oasi Maria SS), Atieh Eslahi(Mashhad University of Medical Sciences), Hessa S. Alsaif(King Faisal Specialist Hospital & Research Centre), Pierangelo Veggiotti(University of Pavia), Selina Banu(National Hospital for Neurology and Neurosurgery), Mercedes Pineda-Marfa(Queen's University Belfast), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Tipu Sultan(Cukurova University), Alberto Verrottı(University of Perugia), Richard G. Boles, Blagovesta Marinova Karashova(Universidade Federal de Pernambuco), Michail Vikelis, Daniela Avdjieva, Dagmar Timmann(National Hospital for Neurology and Neurosurgery), Salvatore Savasta, Richard Person(Baylor College of Medicine), Mayte García-Silva, Savvas Papacostas(Cyprus Institute of Neurology and Genetics), Larissa Arning(National Hospital for Neurology and Neurosurgery), Bru Cormand(Instituto de Salud Carlos III)
Cited by 50
Related Papers
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
|Nature Genetics|2018|2.3k
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k