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Times Cited: 178
Times Cited: 178
Times Cited
Times Co-cited
Similarity
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
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Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.
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A mouse model of episodic ataxia type-1.
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Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
M C D'Adamo, Z Liu, J P Adelman, J Maylie, M Pessia. EMBO J 1998
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Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.
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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.
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Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
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Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
Paola Imbrici, Maria Cristina D'Adamo, Dimitri M Kullmann, Mauro Pessia. Eur J Neurosci 2006
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Hereditary myokymia and periodic ataxia.
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Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
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Biophysical and molecular mechanisms of Shaker potassium channel inactivation.
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Episodic ataxia type 1: a neuronal potassium channelopathy.
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Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment.
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Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
A Klein, E Boltshauser, J Jen, R W Baloh. Neuropediatrics 2004
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Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
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Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
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Association and colocalization of the Kvbeta1 and Kvbeta2 beta-subunits with Kv1 alpha-subunits in mammalian brain K+ channel complexes.
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Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
Paola Imbrici, Antonella Cusimano, Maria Cristina D'Adamo, Amalia De Curtis, Mauro Pessia. Pflugers Arch 2003
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit.
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A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
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A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
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Familial paroxysmal kinesigenic ataxia and continuous myokymia.
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Dynamic control of presynaptic Ca(2+) inflow by fast-inactivating K(+) channels in hippocampal mossy fiber boutons.
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Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
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International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
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Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
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Restoration of inactivation in mutants of Shaker potassium channels by a peptide derived from ShB.
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Three novel KCNA1 mutations in episodic ataxia type I families.
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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
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Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Paola Imbrici, Maria Cristina D'Adamo, Alessandro Grottesi, Andrea Biscarini, Mauro Pessia. Am J Physiol Cell Physiol 2011
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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
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Potassium channel receptor site for the inactivation gate and quaternary amine inhibitors.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.