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Bi-allelic GAD1 var...
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Chatron, N.Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
(author)
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2020-04-13
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Oxford University Press (OUP),2020
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/294823
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https://gup.ub.gu.se/publication/294823URI
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https://doi.org/10.1093/brain/awaa085DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-18483URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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[Additional authors/contributors from:] EuroEpinomics-RES consortium AR working group [see article appendix]
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Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. 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(-/-) mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the c-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.
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Becker, F.Department of Neurology, University of Ulm, Germany / University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany
(author)
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Morsy, H.Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
(author)
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Schmidts, M.Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, The Netherlands / Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands / Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Germany
(author)
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Hardies, K.Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium
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Tuysuz, B.Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
(author)
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Roselli, SandraGothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden(Swepub:gu)xroses
(author)
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Najafi, M.Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, The Netherlands / Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands
(author)
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Alkaya, D. U.Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
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Ashrafzadeh, F.Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Iran
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Nabil, A.Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
(author)
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Omar, T.Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt
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Maroofian, R.Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, UK
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Karimiani, E. G.Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, UK / Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran
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Hussien, H.Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt
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Kok, F.Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil
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Ramos, L.Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil
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Gunes, N.Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
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Bilguvar, K.Department of Genetics, Yale Center for Genome Analysis (YCGA), Yale University, School of Medicine, New Haven, Connecticut
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Labalme, A.Genetics Department, Lyon University Hospital, France
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Alix, E.Genetics Department, Lyon University Hospital, France
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Sanlaville, D.Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
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de Bellescize, J.Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, ERN EpiCARE, University Hospitals of Lyon, France
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Poulat, A. L.Department of Pediatric Neurology, Lyon University Hospital, Lyon, France
(author)
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Moslemi, Ali-RezaGothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden(Swepub:gu)xmosal
(author)
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Lerche, H.University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany
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May, P.Luxemburg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg
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Lesca, G.Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
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Weckhuysen, S.Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium / Department of Neurology, University Hospital Antwerp, Belgium
(author)
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Tajsharghi, HomaHögskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin TRIM, Translational Medicine(Swepub:his)tajh
(author)
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EuroEpinomics, R. E. S. Consortium A. R. Wo
(author)
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Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, FranceDepartment of Neurology, University of Ulm, Germany / University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany
(creator_code:org_t)
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In:Brain: Oxford University Press (OUP)143:5, s. 1447-14610006-89501460-2156
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Chatron, N.
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Becker, F.
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Morsy, H.
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Schmidts, M.
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Hardies, K.
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Tuysuz, B.
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show more...
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Roselli, Sandra
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Najafi, M.
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Alkaya, D. U.
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Ashrafzadeh, F.
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Nabil, A.
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Omar, T.
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Maroofian, R.
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Karimiani, E. G.
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Hussien, H.
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Kok, F.
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Ramos, L.
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Gunes, N.
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Bilguvar, K.
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Labalme, A.
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Alix, E.
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Sanlaville, D.
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de Bellescize, J ...
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Poulat, A. L.
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Moslemi, Ali-Rez ...
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Lerche, H.
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May, P.
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Lesca, G.
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Weckhuysen, S.
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Tajsharghi, Homa
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EuroEpinomics, R ...
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