Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou. Muscle Nerve 2008
Times Cited: 25
Times Cited: 25
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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
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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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/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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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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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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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
Hane Lee, Hui Wang, Joanna C Jen, Chiara Sabatti, Robert W Baloh, Stanley F Nelson. Hum Mutat 2004
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A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Michelle K Demos, Vincenzo Macri, Kevin Farrell, Tanya N Nelson, Kristine Chapman, Eric Accili, Linlea Armstrong. Mov Disord 2009
Michelle K Demos, Vincenzo Macri, Kevin Farrell, Tanya N Nelson, Kristine Chapman, Eric Accili, Linlea Armstrong. Mov Disord 2009
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Episodic ataxia type 1: a neuronal potassium channelopathy.
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Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna. Neurotherapeutics 2007
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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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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
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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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
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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
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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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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Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
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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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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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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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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
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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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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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
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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E R Brunt, T W van Weerden. Brain 1990
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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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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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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
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Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Haijun Chen, Christian von Hehn, Leonard K Kaczmarek, Laura R Ment, Barbara R Pober, Fuki M Hisama. Neurogenetics 2007
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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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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
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Autosomal dominant episodic ataxia: a heterogeneous syndrome.
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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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Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
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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
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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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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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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
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Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
W J Lubbers, E R Brunt, H Scheffer, M Litt, R Stulp, D L Browne, T W van Weerden. J Neurol Neurosurg Psychiatry 1995
W J Lubbers, E R Brunt, H Scheffer, M Litt, R Stulp, D L Browne, T W van Weerden. J Neurol Neurosurg Psychiatry 1995
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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
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Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves.
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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
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Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
Jing Zhu, Rami Alsaber, Jian Zhao, Eugenia Ribeiro-Hurley, William B Thornhill. Arch Biochem Biophys 2012
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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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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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Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.
P Zerr, J P Adelman, J Maylie. J Neurosci 1998
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A gene for episodic ataxia/myokymia maps to chromosome 12p13.
M Litt, P Kramer, D Browne, S Gancher, E R Brunt, D Root, T Phromchotikul, C J Dubay, J Nutt. Am J Hum Genet 1994
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Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
Paola Imbrici, Antonella Cusimano, Maria Cristina D'Adamo, Amalia De Curtis, Mauro Pessia. Pflugers Arch 2003
Paola Imbrici, Antonella Cusimano, Maria Cristina D'Adamo, Amalia De Curtis, Mauro Pessia. Pflugers Arch 2003
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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
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High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
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20
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.