Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

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...

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Publicat a:Am J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570550/
https://ncbi.nlm.nih.gov/pubmed/25865495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.016
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