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Times Cited: 203
Times Cited: 203
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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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
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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 associated with EAAT1 mutation C186S affecting glutamate reuptake.
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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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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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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
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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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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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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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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
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Eye movement disorders are an early manifestation of CACNA1A mutations in children.
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Genetic Variants Associated with Episodic Ataxia in Korea.
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Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
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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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Hereditary myokymia and periodic ataxia.
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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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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
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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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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
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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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Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
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Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
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A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
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Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
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The spectrum of movement disorders in Glut-1 deficiency.
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Hereditary paroxysmal ataxia: response to acetazolamide.
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Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
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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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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
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Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
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Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
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Paroxysmal dyskinesias: clinical features and classification.
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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.