Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy
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Title
Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy
Authors
Keywords
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Journal
EPILEPSIA
Volume 54, Issue 2, Pages 265-271
Publisher
Wiley
Online
2013-01-25
DOI
10.1111/epi.12084
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- (2012) Krishna R. Veeramah et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The genetic variability and commonality of neurodevelopmental disease
- (2012) Bradley P. Coe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
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- (2012) et al. HUMAN MOLECULAR GENETICS
- RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
- (2012) Brent L. Fogel et al. HUMAN MOLECULAR GENETICS
- Allele-Biased Expression in Differentiating Human Neurons: Implications for Neuropsychiatric Disorders
- (2012) Mingyan Lin et al. PLoS One
- Genetics of Epilepsy
- (2012) Massimo Pandolfo SEMINARS IN NEUROLOGY
- Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion
- (2011) Natalie M. Gallant et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rare copy number variants are an important cause of epileptic encephalopathies
- (2011) Heather C. Mefford et al. ANNALS OF NEUROLOGY
- Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research
- (2011) R. Hochstenbach et al. CYTOGENETIC AND GENOME RESEARCH
- Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
- (2011) John C. Mulley et al. EPILEPSIA
- Transcriptomic analysis of autistic brain reveals convergent molecular pathology
- (2011) Irina Voineagu et al. NATURE
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
- (2011) Josephine Elia et al. NATURE GENETICS
- The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
- (2011) Lauren T Gehman et al. NATURE GENETICS
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SNAP-25 in Neuropsychiatric Disorders
- (2009) Irene Corradini et al. Annals of the New York Academy of Sciences
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
- (2009) C. G. F. de Kovel et al. BRAIN
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
- (2009) L. M. Dibbens et al. HUMAN MOLECULAR GENETICS
- Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
- (2009) Ligia A. Papale et al. HUMAN MOLECULAR GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- Autoregulation of Fox protein expression to produce dominant negative splicing factors
- (2009) A. Damianov et al. RNA
- Navigating the channels and beyond: unravelling the genetics of the epilepsies
- (2008) Ingo Helbig et al. LANCET NEUROLOGY
- Mechanisms of human inherited epilepsies
- (2008) Christopher A. Reid et al. PROGRESS IN NEUROBIOLOGY
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