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Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and\/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1\u2212\/\u2212 mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the \u03b3-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and\/or omphalocele.<\/jats:p>","DOI":"10.1093\/brain\/awaa085","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T07:24:20Z","timestamp":1583479460000},"page":"1447-1461","source":"Crossref","is-referenced-by-count":35,"title":["Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy"],"prefix":"10.1093","volume":"143","author":[{"given":"Nicolas","family":"Chatron","sequence":"first","affiliation":[{"name":"Genetics Department, Lyon University Hospital, Lyon, France"},{"name":"Institut NeuroMyoG\u00e8ne CNRS UMR 5310 - INSERM U1217 Universit\u00e9 de Lyon, Universit\u00e9 Claude Bernard Lyon 1, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicitas","family":"Becker","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Ulm, Ulm, Germany"},{"name":"University of T\u00fcbingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba","family":"Morsy","sequence":"first","affiliation":[{"name":"Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Schmidts","sequence":"first","affiliation":[{"name":"Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands"},{"name":"Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands"},{"name":"Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Hardies","sequence":"first","affiliation":[{"name":"Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"Tuysuz","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2998-3760","authenticated-orcid":false,"given":"Sandra","family":"Roselli","sequence":"first","affiliation":[{"name":"Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Najafi","sequence":"first","affiliation":[{"name":"Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands"},{"name":"Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek Uludag","family":"Alkaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Ashrafzadeh","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Mashhad, 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