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Times Cited: 112
Times Cited: 112
Times Cited
Times Co-cited
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
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Hereditary myokymia and periodic ataxia.
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Episodic ataxia results from voltage-dependent potassium channels with altered functions.
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A gene for episodic ataxia/myokymia maps to chromosome 12p13.
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Autosomal dominant episodic ataxia: a heterogeneous syndrome.
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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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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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
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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 paroxysmal ataxia: response to acetazolamide.
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
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A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.
K Vahedi, A Joutel, P Van Bogaert, A Ducros, J Maciazeck, J F Bach, M G Bousser, E Tournier-Lasserve. Ann Neurol 1995
K Vahedi, A Joutel, P Van Bogaert, A Ducros, J Maciazeck, J F Bach, M G Bousser, E Tournier-Lasserve. Ann Neurol 1995
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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
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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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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
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 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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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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Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.
P G Bain, M D O'Brien, S F Keevil, D A Porter. Ann Neurol 1992
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Contractures, continuous muscle discharges, and titubation.
P A Hanson, L B Martinez, R Cassidy. Ann Neurol 1977
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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
H Wang, D D Kunkel, P A Schwartzkroin, B L Tempel. J Neurosci 1994
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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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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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Three novel KCNA1 mutations in episodic ataxia type I families.
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
N A Singh, C Charlier, D Stauffer, B R DuPont, R J Leach, R Melis, G M Ronen, I Bjerre, T Quattlebaum, J V Murphy,[...]. Nat Genet 1998
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
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Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
R W Baloh, Q Yue, J M Furman, S F Nelson. Ann Neurol 1997
R W Baloh, Q Yue, J M Furman, S F Nelson. Ann Neurol 1997
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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
A Klein, E Boltshauser, J Jen, R W Baloh. Neuropediatrics 2004
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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
C Charlier, N A Singh, S G Ryan, T B Lewis, B E Reus, R J Leach, M Leppert. Nat Genet 1998
C Charlier, N A Singh, S G Ryan, T B Lewis, B E Reus, R J Leach, M Leppert. Nat Genet 1998
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Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.
J W Lance. Ann Neurol 1977
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A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
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A potassium channel mutation in neonatal human epilepsy.
C Biervert, B C Schroeder, C Kubisch, S F Berkovic, P Propping, T J Jentsch, O K Steinlein. Science 1998
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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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High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
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Magnetic resonance imaging in familial paroxysmal ataxia.
A Vighetto, J C Froment, M Trillet, G Aimard. Arch Neurol 1988
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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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Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1).
F Bretschneider, A Wrisch, F Lehmann-Horn, S Grissmer. Eur J Neurosci 1999
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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
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Acetazolamide-responsive episodic ataxia syndrome.
N L Zasorin, R W Baloh, L B Myers. Neurology 1983
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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 dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
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Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
C F Fletcher, C M Lutz, T N O'Sullivan, J D Shaughnessy, R Hawkes, W N Frankel, N G Copeland, N A Jenkins. Cell 1996
C F Fletcher, C M Lutz, T N O'Sullivan, J D Shaughnessy, R Hawkes, W N Frankel, N G Copeland, N A Jenkins. Cell 1996
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Progressive ataxia due to a missense mutation in a calcium-channel gene.
Q Yue, J C Jen, S F Nelson, R W Baloh. Am J Hum Genet 1997
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Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
K F Damji, R R Allingham, S C Pollock, K Small, K E Lewis, J M Stajich, L H Yamaoka, J M Vance, M A Pericak-Vance. Arch Neurol 1996
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Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review.
J Newsom-Davis, K R Mills. Brain 1993
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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: a neuronal potassium channelopathy.
Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna. Neurotherapeutics 2007
Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna. Neurotherapeutics 2007
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Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied.
A Kertesz. Neurology 1967
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Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.
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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.