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|Title:||Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.||Austin Authors:||Carvill, Gemma L;McMahon, Jacinta M;Schneider, Amy;Zemel, Matthew;Myers, Candace T;Saykally, Julia;Nguyen, John;Robbiano, Angela;Zara, Federico;Specchio, Nicola;Mecarelli, Oriano;Smith, Robert L;Leventer, Richard J;Møller, Rikke S;Nikanorova, Marina;Dimova, Petia;Jordanova, Albena;Petrou, Steven;Helbig, Ingo;Striano, Pasquale;Weckhuysen, Sarah;Berkovic, Samuel F ;Scheffer, Ingrid E ;Mefford, Heather C||Institutional Author:||EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group||Affiliation:||Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia
Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria.
INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Paris 6) UMR S 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, Paris 75013, France.
Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium
Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium
Department of Neurology, John Hunter Children's Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118, Germany.
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia
Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia
Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.
Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.
Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy.
Danish Epilepsy Centre, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark.
Danish Epilepsy Centre, 4293 Dianalund, Denmark.
Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy.
|Issue Date:||9-Apr-2015||Publication information:||American Journal of Human Genetics 2015; 96(5): 808-15||Abstract:||GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ∼4% of unsolved MAE cases.||Gov't Doc #:||25865495||URI:||http://ahro.austin.org.au/austinjspui/handle/1/12733||DOI:||10.1016/j.ajhg.2015.02.016||URL:||https://pubmed.ncbi.nlm.nih.gov/25865495||Type:||Journal Article|
|Appears in Collections:||Journal articles|
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