Haijun Chen, Christian von Hehn, Leonard K Kaczmarek, Laura R Ment, Barbara R Pober, Fuki M Hisama. Neurogenetics 2007
Times Cited: 24
Times Cited: 24
Times Cited
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Similarity
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
L H Eunson, R Rea, S M Zuberi, S Youroukos, C P Panayiotopoulos, R Liguori, P Avoni, R C McWilliam, J B Stephenson, M G Hanna,[...]. Ann Neurol 2000
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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.
S M Zuberi, L H Eunson, A Spauschus, R De Silva, J Tolmie, N W Wood, R C McWilliam, J B Stephenson, D M Kullmann, M G Hanna. Brain 1999
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Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
M Kinali, H Jungbluth, L H Eunson, C A Sewry, A Y Manzur, E Mercuri, M G Hanna, F Muntoni. Neuromuscul Disord 2004
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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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Episodic ataxia results from voltage-dependent potassium channels with altered functions.
J P Adelman, C T Bond, M Pessia, J Maylie. Neuron 1995
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Primary episodic ataxias: diagnosis, pathogenesis and treatment.
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Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
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Familial paroxysmal kinesigenic ataxia and continuous myokymia.
E R Brunt, T W van Weerden. Brain 1990
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Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
P Zerr, J P Adelman, J Maylie. FEBS Lett 1998
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Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou. Muscle Nerve 2008
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A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
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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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Episodic ataxia type 1: a neuronal potassium channelopathy.
Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna. Neurotherapeutics 2007
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A mouse model of episodic ataxia type-1.
Paco S Herson, Michael Virk, Nathan R Rustay, Chris T Bond, John C Crabbe, John P Adelman, James Maylie. Nat Neurosci 2003
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Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.
A Poujois, J-Ch Antoine, A Combes, R L Touraine. J Neurol 2006
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A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
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A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Hane Lee, Hui Wang, Joanna C Jen, Chiara Sabatti, Robert W Baloh, Stanley F Nelson. Hum Mutat 2004
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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
D L Browne, E R Brunt, R C Griggs, J G Nutt, S T Gancher, E A Smith, M Litt. Hum Mol Genet 1995
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A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Bob Glaudemans, Jenny van der Wijst, Rosana H Scola, Paulo J Lorenzoni, Angelien Heister, Annemiete W van der Kemp, Nine V Knoers, Joost G Hoenderop, René J Bindels. J Clin Invest 2009
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Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.
S L Smart, V Lopantsev, C L Zhang, C A Robbins, H Wang, S Y Chiu, P A Schwartzkroin, A Messing, B L Tempel. Neuron 1998
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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge,[...]. J Neurol Neurosurg Psychiatry 2013
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge,[...]. J Neurol Neurosurg Psychiatry 2013
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Maria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, Elisabeth Hartl, Stephen J Tucker, Larissa Arning, Saskia Biskup, Alessandro Grottesi, Luca Guglielmi, Paola Imbrici,[...]. Front Physiol 2015
Maria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, Elisabeth Hartl, Stephen J Tucker, Larissa Arning, Saskia Biskup, Alessandro Grottesi, Luca Guglielmi, Paola Imbrici,[...]. Front Physiol 2015
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Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves.
L Zhou, C L Zhang, A Messing, S Y Chiu. J Neurosci 1998
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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
Ruth Rea, Alexander Spauschus, Louise H Eunson, Michael G Hanna, Dimitri M Kullmann. J Physiol 2002
Ruth Rea, Alexander Spauschus, Louise H Eunson, Michael G Hanna, Dimitri M Kullmann. J Physiol 2002
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Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
S Comu, M Giuliani, V Narayanan. Ann Neurol 1996
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Localization and targeting of voltage-dependent ion channels in mammalian central neurons.
Helene Vacher, Durga P Mohapatra, James S Trimmer. Physiol Rev 2008
Helene Vacher, Durga P Mohapatra, James S Trimmer. Physiol Rev 2008
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Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
M C D'Adamo, Z Liu, J P Adelman, J Maylie, M Pessia. EMBO J 1998
M C D'Adamo, Z Liu, J P Adelman, J Maylie, M Pessia. EMBO J 1998
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Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
Paola Imbrici, Maria Cristina D'Adamo, Dimitri M Kullmann, Mauro Pessia. Eur J Neurosci 2006
Paola Imbrici, Maria Cristina D'Adamo, Dimitri M Kullmann, Mauro Pessia. Eur J Neurosci 2006
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Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons.
H Wang, D D Kunkel, T M Martin, P A Schwartzkroin, B L Tempel. Nature 1993
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Three novel KCNA1 mutations in episodic ataxia type I families.
H Scheffer, E R Brunt, G J Mol, P van der Vlies, R P Stulp, E Verlind, G Mantel, Y N Averyanov, R M Hofstra, C H Buys. Hum Genet 1998
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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni,[...]. Neurobiol Dis 2012
Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni,[...]. Neurobiol Dis 2012
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Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Enriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, Gemma Iglesias, Ana M Rojas, Miguel Lucas, Antonio Castellano, Amalia Martinez-Mir. Mov Disord 2016
Enriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, Gemma Iglesias, Ana M Rojas, Miguel Lucas, Antonio Castellano, Amalia Martinez-Mir. Mov Disord 2016
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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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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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A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij. Nephron 2018
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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol. J Med Genet 2020
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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Amanda Rogers, Paul Golumbek, Elena Cellini, Viola Doccini, Renzo Guerrini, Carina Wallgren-Pettersson, Ann-Charlotte Thuresson, Christina A Gurnett. Am J Med Genet A 2018
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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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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
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Autosomal dominant episodic ataxia: a heterogeneous syndrome.
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Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
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Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
M C D'Adamo, P Imbrici, F Sponcichetti, M Pessia. FASEB J 1999
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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.
Stephen B Long, Ernest B Campbell, Roderick Mackinnon. Science 2005
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A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
S Rajakulendran, S V Tan, E Matthews, S E Tomlinson, R Labrum, R Sud, D M Kullmann, S Schorge, M G Hanna. Neurology 2009
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Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Paola Imbrici, Maria Cristina D'Adamo, Alessandro Grottesi, Andrea Biscarini, Mauro Pessia. Am J Physiol Cell Physiol 2011
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Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
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Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
Susan E Tomlinson, S Veronica Tan, Dimitri M Kullmann, Robert C Griggs, David Burke, Michael G Hanna, Hugh Bostock. Brain 2010
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Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
H Wang, D D Kunkel, P A Schwartzkroin, B L Tempel. J Neurosci 1994
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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.