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
Times Cited: 35
Times Cited: 35
Times Cited
Times Co-cited
Similarity
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
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Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Brahim Tabarki, Nabil AlMajhad, Amal AlHashem, Ranad Shaheen, Fowzan S Alkuraya. Hum Genet 2016
Brahim Tabarki, Nabil AlMajhad, Amal AlHashem, Ranad Shaheen, Fowzan S Alkuraya. Hum Genet 2016
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KCNMA1-linked channelopathy.
Cole S Bailey, Hans J Moldenhauer, Su Mi Park, Sotirios Keros, Andrea L Meredith. J Gen Physiol 2019
Cole S Bailey, Hans J Moldenhauer, Su Mi Park, Sotirios Keros, Andrea L Meredith. J Gen Physiol 2019
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
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Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram. Balkan Med J 2018
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Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang. Eur J Hum Genet 2018
Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang. Eur J Hum Genet 2018
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
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Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency.
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Mechanism of increased open probability by a mutation of the BK channel.
Ana Díez-Sampedro, William R Silverman, Jocelyn F Bautista, George B Richerson. J Neurophysiol 2006
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An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing.
Junqiu Yang, Gayathri Krishnamoorthy, Akansha Saxena, Guohui Zhang, Jingyi Shi, Huanghe Yang, Kelli Delaloye, David Sept, Jianmin Cui. Neuron 2010
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Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
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Mechanism of increased BK channel activation from a channel mutation that causes epilepsy.
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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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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
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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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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
20
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
Yiguo Shen, Woo-Ping Ge, Yulong Li, Arisa Hirano, Hsien-Yang Lee, Astrid Rohlmann, Markus Missler, Richard W Tsien, Lily Yeh Jan, Ying-Hui Fu,[...]. Proc Natl Acad Sci U S A 2015
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25
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
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
20
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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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
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BK Channels in the Central Nervous System.
C Contet, S P Goulding, D A Kuljis, A L Barth. Int Rev Neurobiol 2016
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Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner. Dev Med Child Neurol 2018
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner. Dev Med Child Neurol 2018
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Molecular Determinants of BK Channel Functional Diversity and Functioning.
Ramon Latorre, Karen Castillo, Willy Carrasquel-Ursulaez, Romina V Sepulveda, Fernando Gonzalez-Nilo, Carlos Gonzalez, Osvaldo Alvarez. Physiol Rev 2017
Ramon Latorre, Karen Castillo, Willy Carrasquel-Ursulaez, Romina V Sepulveda, Fernando Gonzalez-Nilo, Carlos Gonzalez, Osvaldo Alvarez. Physiol Rev 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
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
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{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.
Urvi S Lee, Jianmin Cui. J Physiol 2009
Urvi S Lee, Jianmin Cui. J Physiol 2009
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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
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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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
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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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
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen,[...]. Brain 2011
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
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Multiple regulatory sites in large-conductance calcium-activated potassium channels.
Xiao-Ming Xia, Xuhui Zeng, Christopher J Lingle. Nature 2002
Xiao-Ming Xia, Xuhui Zeng, Christopher J Lingle. Nature 2002
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BK channel activation: structural and functional insights.
Urvi S Lee, Jianmin Cui. Trends Neurosci 2010
Urvi S Lee, Jianmin Cui. Trends Neurosci 2010
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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
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14
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
Frédéric Laumonnier, Sébastien Roger, Pascaline Guérin, Florence Molinari, Ridha M'rad, Dominique Cahard, Ahlem Belhadj, Mohamed Halayem, Antonio M Persico, Maurizio Elia,[...]. Am J Psychiatry 2006
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14
BK potassium channels facilitate high-frequency firing and cause early spike frequency adaptation in rat CA1 hippocampal pyramidal cells.
Ning Gu, Koen Vervaeke, Johan F Storm. J Physiol 2007
Ning Gu, Koen Vervaeke, Johan F Storm. J Physiol 2007
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BK channel beta4 subunit reduces dentate gyrus excitability and protects against temporal lobe seizures.
Robert Brenner, Qing H Chen, Alex Vilaythong, Glenn M Toney, Jeffrey L Noebels, Richard W Aldrich. Nat Neurosci 2005
Robert Brenner, Qing H Chen, Alex Vilaythong, Glenn M Toney, Jeffrey L Noebels, Richard W Aldrich. Nat Neurosci 2005
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Genetic activation of BK currents in vivo generates bidirectional effects on neuronal excitability.
Jenna R Montgomery, Andrea L Meredith. Proc Natl Acad Sci U S A 2012
Jenna R Montgomery, Andrea L Meredith. Proc Natl Acad Sci U S A 2012
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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
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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
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
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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
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
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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.