A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
about
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthMolecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve TerminalsMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentAdvancing epilepsy genetics in the genomic eraUsing familial information for variant filtering in high-throughput sequencing studiesTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionRecessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss PedigreesTBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathwayLoss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisThe Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative StressSLC25A22 is a novel gene for migrating partial seizures in infancy.Neuronal Polarity in the Embryonic Mammalian Cerebral Cortex.Epilepsy genetics--past, present, and futureTBC proteins: GAPs for mammalian small GTPase Rab?The genetic basis of DOORS syndrome: an exome-sequencing studyTBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.Discovery of single nucleotide polymorphisms in candidate genes associated with fertility and production traits in Holstein cattle.A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.Connecdenn 3/DENND1C binds actin linking Rab35 activation to the actin cytoskeleton.PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Epi4K: gene discovery in 4,000 genomes.Advances in epilepsy genetics and genomics.A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityMultiplex families with epilepsy: Success of clinical and molecular genetic characterization.Genetic variations and associated pathophysiology in the management of epilepsy.Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Epilepsy and autism: neurodevelopmental perspective.Emerging major synaptic signaling pathways involved in intellectual disability.Epilepsy: old syndromes, new genes.DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Invited review: Small GTPases and their GAPs.Unresolved questions regarding human hereditary deafness.Silencing of TBC1D15 promotes RhoA activation and membrane blebbing.Coordination of synaptic vesicle trafficking and turnover by the Rab35 signaling network.
P2860
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P2860
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@ast
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@en
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@nl
type
label
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@ast
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@en
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@nl
prefLabel
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@ast
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@en
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@nl
P2093
P2860
P50
P1476
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
@en
P2093
Adel Shalata
Alison E Gardner
Amy Coffey
Graeme D Jackson
John C Mulley
Leanne M Dibbens
Mark A Corbett
Melanie Bahlo
Sara Kivity
Stanley Tan
P2860
P304
P356
10.1016/J.AJHG.2010.08.001
P407
P577
2010-09-01T00:00:00Z