A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
about
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemiaFunctional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymiaAutosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.Molecular targets for antiepileptic drug developmentSumoylation in Synaptic Function and DysfunctionPotassium Channels and Human Epileptic Phenotypes: An Updated OverviewGenetic neurological channelopathies: molecular genetics and clinical phenotypes.New insights into the pathogenesis and therapeutics of episodic ataxia type 1Clinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directionsScorpion toxins specific for potassium (K+) channels: a historical overview of peptide bioengineeringContinuous muscle activity, Morvan's syndrome and limbic encephalitis: ionic or non ionic disorders?Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potentialIon channels and epilepsyPotassium channel antibodies in two patients with reversible limbic encephalitisPotassium channel antibody-associated encephalopathy: a potentially immunotherapy-responsive form of limbic encephalitisVariable K(+) channel subunit dysfunction in inherited mutations of KCNA1Auditory deficits of Kcna1 deletion are similar to those of a monaural hearing impairment.K+ channels at the axon initial segment dampen near-threshold excitability of neocortical fast-spiking GABAergic interneuronsK(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.Reduction of seizures by transplantation of cortical GABAergic interneuron precursors into Kv1.1 mutant mice.Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.Sudden unexpected death in a mouse model of Dravet syndrome.Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant mannerAbnormal Capillary Vasodynamics Contribute to Ictal Neurodegeneration in Epilepsy.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionNeurological channelopathies: diagnosis and therapy in the new millennium.Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseEmerging role of the KCNT1 Slack channel in intellectual disability.The molecular biology of the autosomal-dominant cerebellar ataxias.Generalized epileptic disorders: an update.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy.Ion channels and neurology.Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?The inherited episodic ataxias: how well do we understand the disease mechanisms?Idiopathic epilepsy and paroxysmal dyskinesia.
P2860
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P2860
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A novel mutation in the human ...... ometimes with partial epilepsy
@ast
A novel mutation in the human ...... ometimes with partial epilepsy
@en
type
label
A novel mutation in the human ...... ometimes with partial epilepsy
@ast
A novel mutation in the human ...... ometimes with partial epilepsy
@en
prefLabel
A novel mutation in the human ...... ometimes with partial epilepsy
@ast
A novel mutation in the human ...... ometimes with partial epilepsy
@en
P3181
P356
P1433
P1476
A novel mutation in the human ...... ometimes with partial epilepsy
@en
P2093
S. M. Zuberi
P304
P3181
P356
10.1093/BRAIN/122.5.817
P407
P577
1999-05-01T00:00:00Z