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Times Cited: 17
Times Cited
Times Co-cited
Similarity
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
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Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
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Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
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Phenotypic insights into ADCY5-associated disease.
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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
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Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
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PRRT2 mutations and paroxysmal disorders.
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
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Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Marisela E Dy, Florence C F Chang, Sol De Jesus, Irina Anselm, Neil Mahant, Pamela Zeilman, Lance H Rodan, Kelly D Foote, Wen-Hann Tan, Emad Eskandar,[...]. J Child Neurol 2016
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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
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The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
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Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia. Mov Disord 2009
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
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Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
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Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease.
Maria Bozi, Kailash P Bhatia. Mov Disord 2003
Maria Bozi, Kailash P Bhatia. Mov Disord 2003
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Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Aurélie Méneret, David Grabli, Christel Depienne, Cécile Gaudebout, Fabienne Picard, Alexandra Dürr, Isabelle Lagroua, Delphine Bouteiller, Cyril Mignot, Diane Doummar,[...]. Neurology 2012
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De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Zhong-Bin Zhang, Mao-Qiang Tian, Kai Gao, Yu-Wu Jiang, Ye Wu. Mov Disord 2015
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Psychogenic paroxysmal movement disorders--clinical features and diagnostic clues.
Christos Ganos, Maria Aguirregomozcorta, Amit Batla, Maria Stamelou, Petra Schwingenschuh, Alexander Münchau, Mark J Edwards, Kailash P Bhatia. Parkinsonism Relat Disord 2014
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GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.
Michaela Waak, Shekeeb S Mohammad, David Coman, Kate Sinclair, Lisa Copeland, Peter Silburn, Terry Coyne, Jim McGill, Mary O'Regan, Richard Selway,[...]. J Neurol Neurosurg Psychiatry 2018
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Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
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Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.
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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
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Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
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Paroxysmal movement disorders in GLUT1 deficiency syndrome.
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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
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The multiple faces of the ATP1A3-related dystonic movement disorder.
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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.