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Title
Defining the phenotypic spectrum of SLC6A1
mutations
Authors
Keywords
-
Journal
EPILEPSIA
Volume 59, Issue 2, Pages 389-402
Publisher
Wiley
Online
2018-01-10
DOI
10.1111/epi.13986
References
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Related references
Note: Only part of the references are listed.- Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
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- Hyperactivity and impaired attention in Gamma aminobutyric acid transporter subtype 1 gene knockout mice
- (2015) Long Chen et al. ACTA NEUROPSYCHIATRICA
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
- (2015) Gemma L. Carvill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
- (2015) Jan Larsen et al. EPILEPSIA
- Mosaic mutations in early-onset genetic diseases
- (2015) Matt Halvorsen et al. GENETICS IN MEDICINE
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- (2015) Long Chen et al. ACTA NEUROPSYCHIATRICA
- 3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior
- (2014) Nicola Dikow et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Subcellular Localization of GABA Transporters and Its Implication for Seizure Management
- (2014) Karsten K. Madsen et al. NEUROCHEMICAL RESEARCH
- Structure, function, and plasticity of GABA transporters
- (2014) Annalisa Scimemi Frontiers in Cellular Neuroscience
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Molecular and Therapeutic Potential and Toxicity of Valproic Acid
- (2010) Sébastien Chateauvieux et al. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY
- Enhanced tonic GABAA inhibition in typical absence epilepsy
- (2009) David W Cope et al. NATURE MEDICINE
- Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy
- (2008) Miyabi Tanaka et al. AMERICAN JOURNAL OF HUMAN GENETICS
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