Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy
- 6 June 2008
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 82 (6), 1249-1261
- https://doi.org/10.1016/j.ajhg.2008.04.020
Abstract
No abstract availableKeywords
This publication has 59 references indexed in Scilit:
- 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disordersHuman Molecular Genetics, 2007
- Genes and loci involved in febrile seizures and related epilepsy syndromesHuman Mutation, 2006
- Sleep, epilepsy and thalamic reticular inhibitory neuronsTrends in Neurosciences, 2005
- GABAA receptor β3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in β3 subunit levels, EEG, and behaviorDevelopmental Brain Research, 2005
- How Well Can Epilepsy Syndromes Be Identified at Diagnosis? A Reassessment 2 Years After Initial DiagnosisEpilepsia, 2000
- Expression of Functional GABAA Receptors in Transfected L929 Cells Isolated by Immunomagnetic Bead SeparationNeuropharmacology, 1997
- The Human γ-Aminobutyric Acid Receptor Subunit β3 and α5 Gene Cluster in Chromosome 15q11-q13 Is Rich in Highly Polymorphic (CA)n RepeatsGenomics, 1994
- Different postnatal development profiles of neurons containing distinct GABAA receptor β subunit mRNAs (β1, β2, and β3) in the rat forebrainJournal of Comparative Neurology, 1991
- Different postnatal ontogenic profiles of neurons containing β (β1, β2 and β3) subunit mRNAs of GABAA receptor in the rat thalamusDevelopmental Brain Research, 1991
- Childhood Epilepsy of Subcortical ("Centrencephalic") OriginClinical Pediatrics, 1966