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Sökning: WFRF:(Weckhuysen S) > Bi-allelic GAD1 var...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00009278naa a2200973 4500
001oai:gup.ub.gu.se/294823
003SwePub
008240528s2020 | |||||||||||000 ||eng|
009oai:DiVA.org:his-18483
0247 a https://gup.ub.gu.se/publication/2948232 URI
0247 a https://doi.org/10.1093/brain/awaa0852 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-184832 URI
040 a (SwePub)gud (SwePub)his
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Chatron, N.u Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France4 aut
2451 0a Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
264 c 2020-04-13
264 1b Oxford University Press (OUP),c 2020
500 a [Additional authors/contributors from:] EuroEpinomics-RES consortium AR working group [see article appendix]
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a GAD1
653 a suppression-burst
653 a hypsarrhythmia
653 a arthrogryposis
653 a omphalocele
653 a cleft palate
653 a glutamic-acid decarboxylase
653 a gamma-aminobutyric-acid
653 a de-novo mutations
653 a cleft-palate
653 a 67-kda isoform
653 a gene
653 a mice
653 a schizophrenia
653 a classification
653 a association
653 a Neurosciences & Neurology
653 a arthrogryposis
653 a Translationell medicin TRIM
7001 a Becker, F.u Department of Neurology, University of Ulm, Germany / University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany4 aut
7001 a Morsy, H.u Human Genetics Department, Medical Research Institute, Alexandria University, Egypt4 aut
7001 a Schmidts, M.u 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, Germany4 aut
7001 a Hardies, K.u Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium4 aut
7001 a Tuysuz, B.u Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey4 aut
7001 a Roselli, Sandrau Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden4 aut0 (Swepub:gu)xroses
7001 a Najafi, M.u Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, The Netherlands / Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands4 aut
7001 a Alkaya, D. U.u Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey4 aut
7001 a Ashrafzadeh, F.u Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Iran4 aut
7001 a Nabil, A.u Human Genetics Department, Medical Research Institute, Alexandria University, Egypt4 aut
7001 a Omar, T.u Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt4 aut
7001 a Maroofian, R.u Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, UK4 aut
7001 a Karimiani, E. G.u 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, Iran4 aut
7001 a Hussien, H.u Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt4 aut
7001 a Kok, F.u Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil4 aut
7001 a Ramos, L.u Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil4 aut
7001 a Gunes, N.u Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey4 aut
7001 a Bilguvar, K.u Department of Genetics, Yale Center for Genome Analysis (YCGA), Yale University, School of Medicine, New Haven, Connecticut4 aut
7001 a Labalme, A.u Genetics Department, Lyon University Hospital, France4 aut
7001 a Alix, E.u Genetics Department, Lyon University Hospital, France4 aut
7001 a Sanlaville, D.u Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France4 aut
7001 a de Bellescize, J.u Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, ERN EpiCARE, University Hospitals of Lyon, France4 aut
7001 a Poulat, A. L.u Department of Pediatric Neurology, Lyon University Hospital, Lyon, France4 aut
7001 a Moslemi, Ali-Rezau Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden4 aut0 (Swepub:gu)xmosal
7001 a Lerche, H.u University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany4 aut
7001 a May, P.u Luxemburg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg4 aut
7001 a Lesca, G.u Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France4 aut
7001 a Weckhuysen, S.u Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium / Department of Neurology, University Hospital Antwerp, Belgium4 aut
7001 a Tajsharghi, Homau Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin TRIM, Translational Medicine4 aut0 (Swepub:his)tajh
7001 a EuroEpinomics, R. E. S. Consortium A. R. Wo4 aut
7102 a Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, Franceb Department of Neurology, University of Ulm, Germany / University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany4 org
7730 t Braind : Oxford University Press (OUP)g 143:5, s. 1447-1461q 143:5<1447-1461x 0006-8950x 1460-2156
8564 u https://academic.oup.com/brain/article-pdf/143/5/1447/33456875/awaa085.pdf
8564 u https://doi.org/10.1093/brain/awaa085y Fulltext
8564 u https://his.diva-portal.org/smash/get/diva2:1435960/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://gup.ub.gu.se/publication/294823
8564 8u https://doi.org/10.1093/brain/awaa085
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-18483

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