Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
about
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsyAdvances in genetics of juvenile myoclonic epilepsiesCalcium channels: critical targets of toxicants and diseases.Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersIntegration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxiaAtaxia.Episodic Ataxias: Clinical and Genetic FeaturesA mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaIon channels and epilepsyEnhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in manMigrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4The neurobiology of antiepileptic drugsMutations in EFHC1 cause juvenile myoclonic epilepsyThe light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsyThe ß subunit of voltage-gated Ca2+ channelsFunctional modularity of the beta-subunit of voltage-gated Ca2+ channels.Role of voltage-gated calcium channels in epilepsy.Calcium channel dysfunction in inferior colliculus neurons of the genetically epilepsy-prone ratGene expression in cortical interneuron precursors is prescient of their mature function.Childhood absence epilepsy: genes, channels, neurons and networks.Regulation of high-voltage-activated Ca(2+) channel function, trafficking, and membrane stability by auxiliary subunits.Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cellsGenetic testing in the epilepsies--report of the ILAE Genetics CommissionGenetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseChannelopathies: ion channel defects linked to heritable clinical disorders.Paroxysmal dyskinesias.The inherited episodic ataxias: how well do we understand the disease mechanisms?Genes and genetic testing in hereditary ataxias.The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.Identification of epilepsy genes in human and mouseGeneration of a neuro-specific microarray reveals novel differentially expressed noncoding RNAs in mouse models for neurodegenerative diseasesMutations in prickle orthologs cause seizures in flies, mice, and humans.Genes associated with idiopathic epilepsies: a current overview.The neuronal channelopathies.Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersGenetics of recurrent vertigo and vestibular disordersNovel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
P2860
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P2860
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
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2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Coding and noncoding variation ...... d epilepsy and episodic ataxia
@nl
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@ast
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en-gb
type
label
Coding and noncoding variation ...... d epilepsy and episodic ataxia
@nl
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@ast
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en-gb
prefLabel
Coding and noncoding variation ...... d epilepsy and episodic ataxia
@nl
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@ast
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en-gb
P2093
P2860
P3181
P356
P1476
Coding and noncoding variation ...... epilepsy and episodic ataxia.
@en
P2093
J Johnston
M De Waard
M H Meisler
P2860
P304
P3181
P356
10.1086/302909
P407
P577
2000-04-04T00:00:00Z