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

[1]  A. Jauch,et al.  3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior , 2014, American journal of medical genetics. Part A.

[2]  A. Scimemi.  Structure, function, and plasticity of GABA transporters , 2014, Front. Cell. Neurosci..

[3]  Allan R. Jones,et al.  Transcriptional Landscape of the Prenatal Human Brain , 2014, Nature.

[4]  A. Schousboe,et al.  The GABA Synapse as a Target for Antiepileptic Drugs: A Historical Overview Focused on GABA Transporters , 2014, Neurochemical Research.

[5]  J. Shendure,et al.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.

[6]  Jay Shendure,et al.  Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation , 2013, Genome research.

[7]  B. Kanner,et al.  Functional Defects in the External and Internal Thin Gates of the γ-Aminobutyric Acid (GABA) Transporter GAT-1 Can Compensate Each Other* , 2013, The Journal of Biological Chemistry.

[8]  De novo mutations in epileptic encephalopathies , 2013 .

[9]  D. Horn,et al.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.

[10]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[11]  Kate M. Lawrence,et al.  Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. , 2011, Archives of neurology.

[12]  D. Hristova,et al.  One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene , 2011, Neuroscience Letters.

[13]  J. H. Cross,et al.  Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 , 2010, Epilepsia.

[14]  A. Jordanova,et al.  Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. , 2010, Pediatric Neurology.

[15]  K. T. Wanner,et al.  Generation of a 3D model for human GABA transporter hGAT-1 using molecular modeling and investigation of the binding of GABA , 2010, Journal of molecular modeling.

[16]  Vincenzo Crunelli,et al.  Enhanced tonic GABAA inhibition in typical absence epilepsy , 2009, Nature Medicine.

[17]  B. Kanner,et al.  The Substrates of the γ-Aminobutyric Acid Transporter GAT-1 Induce Structural Rearrangements around the Interface of Transmembrane Domains 1 and 6* , 2008, Journal of Biological Chemistry.

[18]  A. Bergqvist,et al.  Current Treatment of Myoclonic Astatic Epilepsy: Clinical Experience at the Children's Hospital of Philadelphia , 2007, Epilepsia.

[19]  These authors contributed equally to this work. , 2007 .

[20]  H. Doose,et al.  Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease , 1987, European Journal of Pediatrics.

[21]  M. Koepp,et al.  Status Epilepticus and Tiagabine Therapy Revisited , 2005, Epilepsia.

[22]  A. Brice,et al.  Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy , 2003, Epilepsy Research.

[23]  H. Lester,et al.  GABA transporter-1 (GAT1)-deficient mice: differential tonic activation of GABAA versus GABAB receptors in the hippocampus. , 2003, Journal of neurophysiology.

[24]  S. Quake,et al.  Number, Density, and Surface/Cytoplasmic Distribution of GABA Transporters at Presynaptic Structures of Knock-In Mice Carrying GABA Transporter Subtype 1–Green Fluorescent Protein Fusions , 2002, The Journal of Neuroscience.

[25]  M. Funatsuka,et al.  Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions on the nosology of the syndrome , 2001, Brain and Development.

[26]  I. Scheffer,et al.  Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. , 2001, American journal of human genetics.

[27]  A. Heils,et al.  A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. , 2001, American journal of human genetics.

[28]  W. Hauser,et al.  Status Epilepticus and Tiagabine Therapy: Review of Safety Data and Epidemiologic Comparisons , 2001, Epilepsia.

[29]  I. Scheffer,et al.  Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. , 2001, Nature genetics.

[30]  David A. Williams,et al.  Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures , 2001, Nature Genetics.

[31]  G. Dellatolas,et al.  Delineation of cryptogenic Lennox–Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis , 1999, Epilepsy Research.

[32]  I. Scheffer,et al.  Generalized epilepsy with febrile seizures plus: A common childhood‐onset genetic epilepsy syndrome , 1999, Annals of neurology.

[33]  Samuel F. Berkovic,et al.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B , 1998, Nature Genetics.

[34]  A. Ducati,et al.  Neuronal and glial localization of GAT‐1, a high‐affinity γ‐aminobutyric acid plasma membrane transporter, in human cerebral cortex: With a note on its distribution in monkey cortex , 1998 .

[35]  Douglas C. Wallace,et al.  Radicals r'aging , 1998, Nature Genetics.

[36]  D. Hosford,et al.  Differential effects mediated by GABAA receptors in thalamic nuclei in lh/lh model of absence seizures , 1997, Epilepsy Research.

[37]  N. Brecha,et al.  GAT-3, a High-Affinity GABA Plasma Membrane Transporter, Is Localized to Astrocytic Processes, and It Is Not Confined to the Vicinity of GABAergic Synapses in the Cerebral Cortex , 1996, The Journal of Neuroscience.

[38]  B. Kanner,et al.  Stoichiometry of sodium- and chloride-coupled gamma-aminobutyric acid transport by synaptic plasma membrane vesicles isolated from rat brain. , 1983, Biochemistry.

[39]  R. Grantham.  Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.

[40]  H. Doose,et al.  Centrencephalic Myoclonic-Astatic Petit Mal1 – Clinical and genetic investigations , 1970, Neuropadiatrie.

[41]  L. Wilkins.  The Epileptic Seizure , 1958, Neurology.

[42]  J. Sutter.  American Society of Human Genetics. - The American Journal of Human Genetics , 1950 .