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Times Cited: 183
Times Cited: 183
Times Cited
Times Co-cited
Similarity
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
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Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
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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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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
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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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Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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A novel locus for episodic ataxia:UBR4 the likely candidate.
Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh,[...]. Eur J Hum Genet 2014
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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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Hereditary myokymia and periodic ataxia.
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A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
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Eye movement disorders are an early manifestation of CACNA1A mutations in children.
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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
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Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
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A new episodic ataxia syndrome with linkage to chromosome 19q13.
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Consensus paper: management of degenerative cerebellar disorders.
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Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
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Late-onset episodic ataxia associated with SLC1A3 mutation.
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Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
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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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The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia.
Karina Alviña, Kamran Khodakhah. J Neurosci 2010
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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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Hereditary paroxysmal ataxia: response to acetazolamide.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
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Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
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Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
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Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
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Genetic Variants Associated with Episodic Ataxia in Korea.
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A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.
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Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
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Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
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Primary structure and functional expression from complementary DNA of a brain calcium channel.
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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.