Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
Times Cited: 34
Times Cited: 34
Times Cited
Times Co-cited
Similarity
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J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
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A novel locus for episodic ataxia:UBR4 the likely candidate.
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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
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The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
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Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
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14
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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Phenotypes, genotypes, and the management of paroxysmal movement disorders.
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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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Late-onset episodic ataxia associated with SLC1A3 mutation.
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A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
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A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
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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.