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Sökning: WFRF:(Becker D) > Högskolan i Skövde > Bi-allelic GAD1 var...

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Chatron, N. (författare)
Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
Becker, F. (författare)
Department of Neurology, University of Ulm, Germany / University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany
Morsy, H. (författare)
Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
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Schmidts, M. (författare)
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
Hardies, K. (författare)
Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium
Tuysuz, B. (författare)
Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
Roselli, Sandra (författare)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden
Najafi, M. (författare)
Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, The Netherlands / Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands
Alkaya, D. U. (författare)
Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
Ashrafzadeh, F. (författare)
Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Iran
Nabil, A. (författare)
Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
Omar, T. (författare)
Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt
Maroofian, R. (författare)
Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, UK
Karimiani, E. G. (författare)
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
Hussien, H. (författare)
Pediatrics Department, Faculty of Medicine, Alexandria University, Egypt
Kok, F. (författare)
Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil
Ramos, L. (författare)
Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil
Gunes, N. (författare)
Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Turkey
Bilguvar, K. (författare)
Department of Genetics, Yale Center for Genome Analysis (YCGA), Yale University, School of Medicine, New Haven, Connecticut
Labalme, A. (författare)
Genetics Department, Lyon University Hospital, France
Alix, E. (författare)
Genetics Department, Lyon University Hospital, France
Sanlaville, D. (författare)
Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
de Bellescize, J. (författare)
Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, ERN EpiCARE, University Hospitals of Lyon, France
Poulat, A. L. (författare)
Department of Pediatric Neurology, Lyon University Hospital, Lyon, France
Moslemi, Ali-Reza (författare)
Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden
Lerche, H. (författare)
University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany
May, P. (författare)
Luxemburg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg
Lesca, G. (författare)
Genetics Department, Lyon University Hospital, France / Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, France
Weckhuysen, S. (författare)
Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Belgium / Department of Neurology, University Hospital Antwerp, Belgium
Tajsharghi, Homa (författare)
Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin TRIM, Translational Medicine
EuroEpinomics, R. E. S. Consortium A. R. Wo (författare)
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 (creator_code:org_t)
2020-04-13
2020
Engelska.
Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:5, s. 1447-1461
Relaterad länk:
https://academic.oup...
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https://doi.org/10.1...
https://his.diva-por... (primary) (Raw object)
https://gup.ub.gu.se...
https://doi.org/10.1...
https://urn.kb.se/re...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

GAD1
suppression-burst
hypsarrhythmia
arthrogryposis
omphalocele
cleft palate
glutamic-acid decarboxylase
gamma-aminobutyric-acid
de-novo mutations
cleft-palate
67-kda isoform
gene
mice
schizophrenia
classification
association
Neurosciences & Neurology
arthrogryposis
Translationell medicin TRIM

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