A citation-based method for searching scientific literature

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
Times Cited: 36






Login to export Results
Don't have an account? Register here

List of co-cited articles
322 articles co-cited >1



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
586
25
69

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
255
23
63

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
170
22
61

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
44
16
44

Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
108
16
44

Episodic ataxia results from voltage-dependent potassium channels with altered functions.
J P Adelman, C T Bond, M Pessia, J Maylie. Neuron 1995
178
15
41

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
30
14
46

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
25
13
52

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
P Imbrici, F Gualandi, M C D'Adamo, M Taddei Masieri, P Cudia, D De Grandis, R Mannucci, I Nicoletti, S J Tucker, A Ferlini,[...]. Neuroscience 2008
29
13
44

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
55
13
36

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
43
12
33

Episodic ataxia type 1: a neuronal potassium channelopathy.
Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna. Neurotherapeutics 2007
64
12
33

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
433
12
33

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
32
12
37

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
29
12
41

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
41
12
33

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
18
11
61

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
101
11
30

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
73
11
30

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
30
10
33

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
43
10
27

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
67
10
27

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
206
9
25

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
96
9
25

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
79
9
25

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
44
9
25

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
523
9
25

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
P Zerr, J P Adelman, J Maylie. FEBS Lett 1998
40
8
22

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
24
8
33

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
60
8
22

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
25
8
32

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
111
8
22

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Saeko Ishida, Yu Sakamoto, Takeshi Nishio, Stéphanie Baulac, Mitsuru Kuwamura, Yukihiro Ohno, Akiko Takizawa, Shuji Kaneko, Tadao Serikawa, Tomoji Mashimo. Brain Res 2012
26
8
30

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Catherine A Brownstein, Alan H Beggs, Lance Rodan, Jiahai Shi, Meghan C Towne, Renee Pelletier, Siqi Cao, Paul A Rosenberg, David K Urion, Jonathan Picker,[...]. Neurogenetics 2016
21
8
38

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
19
8
42

Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.
Edward Glasscock, Jong W Yoo, Tim T Chen, Tara L Klassen, Jeffrey L Noebels. J Neurosci 2010
139
7
19

Familial paroxysmal kinesigenic ataxia and continuous myokymia.
E R Brunt, T W van Weerden. Brain 1990
112
7
19

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
316
7
19

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
26
7
26

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
14
7
50

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Paola Imbrici, Concetta Altamura, Francesca Gualandi, Giuseppe Felice Mangiatordi, Marcella Neri, Giovanni De Maria, Alessandra Ferlini, Alessandro Padovani, Maria Cristina D'Adamo, Orazio Nicolotti,[...]. Mol Cell Neurosci 2017
15
7
46

Localization and targeting of voltage-dependent ion channels in mammalian central neurons.
Helene Vacher, Durga P Mohapatra, James S Trimmer. Physiol Rev 2008
324
6
16

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
67
6
16

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
S Comu, M Giuliani, V Narayanan. Ann Neurol 1996
51
6
16

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
72
6
16

Determinants of excitability at transition zones in Kv1.1-deficient myelinated nerves.
L Zhou, A Messing, S Y Chiu. J Neurosci 1999
59
6
16

Familial continuous motor unit activity and epilepsy.
R Liguori, P Avoni, A Baruzzi, V Di Stasi, P Montagna. Muscle Nerve 2001
17
6
35

Voltage-gated potassium channels and the diversity of electrical signalling.
Lily Yeh Jan, Yuh Nung Jan. J Physiol 2012
131
6
16

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
49
6
16

Autosomal dominant episodic ataxia: a heterogeneous syndrome.
S T Gancher, J G Nutt. Mov Disord 1986
73
6
16


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.

Longstocking, LLC. © 2021
Home | About Us | FAQs | Terms & Privacy