Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
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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 myokymiaMyokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channelElectrogenic tuning of the axon initial segmentA truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction.Potassium 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 1Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segmentWhole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1ADAM22, a Kv1 channel-interacting protein, recruits membrane-associated guanylate kinases to juxtaparanodes of myelinated axonsK(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.Kv4.2 knockout mice demonstrate increased susceptibility to convulsant stimulationNeurological channelopathies.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 mannerMutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editingGenetic testing in the epilepsies--report of the ILAE Genetics CommissionMutations in KCND3 cause spinocerebellar ataxia type 22.A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaPharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseIon channels and neurology.Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperatureMechanisms of epileptogenesis: a convergence on neural circuit dysfunction.Clustered K+ channel complexes in axonsNerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.Developmental expression of Kv potassium channels at the axon initial segment of cultured hippocampal neuronsNovel phenotype associated with a mutation in the KCNA1(Kv1.1) geneAutoimmune channelopathies of the nervous systemGenetics of recurrent vertigo and vestibular disordersThe Molecular Basis of Polyunsaturated Fatty Acid Interactions with the Shaker Voltage-Gated Potassium ChannelThe episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsyLoss of the Kv1.1 potassium channel promotes pathologic sharp waves and high frequency oscillations in in vitro hippocampal slices.Action potential broadening in a presynaptic channelopathy.A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.
P2860
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P2860
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
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2000 nî lūn-bûn
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2000年の論文
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Clinical, genetic, and express ...... eal new phenotypic variability
@ast
Clinical, genetic, and express ...... eal new phenotypic variability
@en
Clinical, genetic, and express ...... eal new phenotypic variability
@nl
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Clinical, genetic, and express ...... eal new phenotypic variability
@ast
Clinical, genetic, and express ...... eal new phenotypic variability
@en
Clinical, genetic, and express ...... eal new phenotypic variability
@nl
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Clinical, genetic, and express ...... eal new phenotypic variability
@ast
Clinical, genetic, and express ...... eal new phenotypic variability
@en
Clinical, genetic, and express ...... eal new phenotypic variability
@nl
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Clinical, genetic, and express ...... eal new phenotypic variability
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A Spauschus
C P Panayiotopoulos
D M Kullmann
J B Stephenson
L H Eunson
R C McWilliam
P304
P3181
P356
10.1002/1531-8249(200010)48:4<647::AID-ANA12>3.3.CO;2-H
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P577
2000-10-01T00:00:00Z