J Jen, G W Kim, R W Baloh. Neurology 2004
Times Cited: 183
Times Cited: 183
Times Cited
Times Co-cited
Similarity
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
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
51
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
44
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
30
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
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
29
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
28
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
47
Hereditary paroxysmal ataxia: response to acetazolamide.
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
24
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
A Ducros, C Denier, A Joutel, M Cecillon, C Lescoat, K Vahedi, F Darcel, E Vicaut, M G Bousser, E Tournier-Lasserve. N Engl J Med 2001
A Ducros, C Denier, A Joutel, M Cecillon, C Lescoat, K Vahedi, F Darcel, E Vicaut, M G Bousser, E Tournier-Lasserve. N Engl J Med 2001
23
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
22
21
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
20
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
20
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
19
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
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
44
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
Sanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, Dimitrios Kotzadimitriou, Louise Eunson, Mary B Davis, Rosalyn Davies, Nicholas W Wood, Dimitri M Kullmann, Michael G Hanna,[...]. J Physiol 2010
Sanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, Dimitrios Kotzadimitriou, Louise Eunson, Mary B Davis, Rosalyn Davies, Nicholas W Wood, Dimitri M Kullmann, Michael G Hanna,[...]. J Physiol 2010
28
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, R Peyron. J Neurol Neurosurg Psychiatry 2009
P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, R Peyron. J Neurol Neurosurg Psychiatry 2009
69
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
15
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
Paola Imbrici, Stephen L Jaffe, Louise H Eunson, Nicholas P Davies, Colin Herd, Robert Robertson, Dimitri M Kullmann, Michael G Hanna. Brain 2004
Paola Imbrici, Stephen L Jaffe, Louise H Eunson, Nicholas P Davies, Colin Herd, Robert Robertson, Dimitri M Kullmann, Michael G Hanna. Brain 2004
15
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
Wolfgang Nachbauer, Michael Nocker, Elfriede Karner, Iva Stankovic, Iris Unterberger, Andreas Eigentler, Rainer Schneider, Werner Poewe, Margarete Delazer, Sylvia Boesch. J Neurol 2014
Wolfgang Nachbauer, Michael Nocker, Elfriede Karner, Iva Stankovic, Iris Unterberger, Andreas Eigentler, Rainer Schneider, Werner Poewe, Margarete Delazer, Sylvia Boesch. J Neurol 2014
40
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
J Jen, J Wan, M Graves, H Yu, A F Mock, C J Coulin, G Kim, Q Yue, D M Papazian, R W Baloh. Neurology 2001
J Jen, J Wan, M Graves, H Yu, A F Mock, C J Coulin, G Kim, Q Yue, D M Papazian, R W Baloh. Neurology 2001
14
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
C Denier, A Ducros, K Vahedi, A Joutel, P Thierry, A Ritz, G Castelnovo, T Deonna, P Gérard, J L Devoize,[...]. Neurology 1999
C Denier, A Ducros, K Vahedi, A Joutel, P Thierry, A Ritz, G Castelnovo, T Deonna, P Gérard, J L Devoize,[...]. Neurology 1999
14
The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia.
Karina Alviña, Kamran Khodakhah. J Neurosci 2010
Karina Alviña, Kamran Khodakhah. J Neurosci 2010
13
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
27
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi,[...]. Hum Mol Genet 1997
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi,[...]. Hum Mol Genet 1997
13
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Romina Romaniello, Claudio Zucca, Alessandra Tonelli, Sara Bonato, Cinzia Baschirotto, Nicoletta Zanotta, Roberta Epifanio, Andrea Righini, Nereo Bresolin, Maria T Bassi,[...]. J Neurol Neurosurg Psychiatry 2010
Romina Romaniello, Claudio Zucca, Alessandra Tonelli, Sara Bonato, Cinzia Baschirotto, Nicoletta Zanotta, Roberta Epifanio, Andrea Righini, Nereo Bresolin, Maria T Bassi,[...]. J Neurol Neurosurg Psychiatry 2010
37
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, T Fellin, M Spadaro, K Stauderman, M Williams,[...]. Am J Hum Genet 2001
S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, T Fellin, M Spadaro, K Stauderman, M Williams,[...]. Am J Hum Genet 2001
12
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr,[...]. J Med Genet 2009
R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr,[...]. J Med Genet 2009
30
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
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
20
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
J Jen, Q Yue, S F Nelson, H Yu, M Litt, J Nutt, R W Baloh. Neurology 1999
J Jen, Q Yue, S F Nelson, H Yu, M Litt, J Nutt, R W Baloh. Neurology 1999
12
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Esther M Tantsis, Deepak Gill, Lyn Griffiths, Sachin Gupta, John Lawson, Neven Maksemous, Robert Ouvrier, Florence Riant, Robert Smith, Christopher Troedson,[...]. Dev Med Child Neurol 2016
Esther M Tantsis, Deepak Gill, Lyn Griffiths, Sachin Gupta, John Lawson, Neven Maksemous, Robert Ouvrier, Florence Riant, Robert Smith, Christopher Troedson,[...]. Dev Med Child Neurol 2016
29
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
E E Kors, G M Terwindt, F L Vermeulen, R B Fitzsimons, P E Jardine, P Heywood, S Love, A M van den Maagdenberg, J Haan, R R Frants,[...]. Ann Neurol 2001
E E Kors, G M Terwindt, F L Vermeulen, R B Fitzsimons, P E Jardine, P Heywood, S Love, A M van den Maagdenberg, J Haan, R R Frants,[...]. Ann Neurol 2001
11
A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.
Alexandre Mezghrani, Arnaud Monteil, Katrin Watschinger, Martina J Sinnegger-Brauns, Christian Barrère, Emmanuel Bourinet, Joël Nargeot, Jörg Striessnig, Philippe Lory. J Neurosci 2008
Alexandre Mezghrani, Arnaud Monteil, Katrin Watschinger, Martina J Sinnegger-Brauns, Christian Barrère, Emmanuel Bourinet, Joël Nargeot, Jörg Striessnig, Philippe Lory. J Neurosci 2008
18
N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2.
Karen M Page, Fay Heblich, Wojciech Margas, Wendy S Pratt, Manuela Nieto-Rostro, Kanchan Chaggar, Kieran Sandhu, Anthony Davies, Annette C Dolphin. J Biol Chem 2010
Karen M Page, Fay Heblich, Wojciech Margas, Wendy S Pratt, Manuela Nieto-Rostro, Kanchan Chaggar, Kieran Sandhu, Anthony Davies, Annette C Dolphin. J Biol Chem 2010
26
Treatment of downbeat nystagmus with 3,4-diaminopyridine: a placebo-controlled study.
M Strupp, O Schüler, S Krafczyk, K Jahn, F Schautzer, U Büttner, T Brandt. Neurology 2003
M Strupp, O Schüler, S Krafczyk, K Jahn, F Schautzer, U Büttner, T Brandt. Neurology 2003
11
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Boukje de Vries, Hafsa Mamsa, Anine H Stam, Jijun Wan, Stef L M Bakker, Kaate R J Vanmolkot, Joost Haan, Gisela M Terwindt, Elles M J Boon, Bruce D Howard,[...]. Arch Neurol 2009
Boukje de Vries, Hafsa Mamsa, Anine H Stam, Jijun Wan, Stef L M Bakker, Kaate R J Vanmolkot, Joost Haan, Gisela M Terwindt, Elles M J Boon, Bruce D Howard,[...]. Arch Neurol 2009
12
Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
11
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
11
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
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
11
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
M Z Cader, J L Steckley, D A Dyment, R S McLachlan, G C Ebers. Neurology 2005
M Z Cader, J L Steckley, D A Dyment, R S McLachlan, G C Ebers. Neurology 2005
30
A new episodic ataxia syndrome with linkage to chromosome 19q13.
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
30
Consensus paper: management of degenerative cerebellar disorders.
W Ilg, A J Bastian, S Boesch, R G Burciu, P Celnik, J Claaßen, K Feil, R Kalla, I Miyai, W Nachbauer,[...]. Cerebellum 2014
W Ilg, A J Bastian, S Boesch, R G Burciu, P Celnik, J Claaßen, K Feil, R Kalla, I Miyai, W Nachbauer,[...]. Cerebellum 2014
11
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
11
Downbeat nystagmus: aetiology and comorbidity in 117 patients.
J N Wagner, M Glaser, T Brandt, M Strupp. J Neurol Neurosurg Psychiatry 2008
J N Wagner, M Glaser, T Brandt, M Strupp. J Neurol Neurosurg Psychiatry 2008
10
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels.
R E Westenbroek, T Sakurai, E M Elliott, J W Hell, T V Starr, T P Snutch, W A Catterall. J Neurosci 1995
R E Westenbroek, T Sakurai, E M Elliott, J W Hell, T V Starr, T P Snutch, W A Catterall. J Neurosci 1995
10
Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit.
K Jun, E S Piedras-Rentería, S M Smith, D B Wheeler, S B Lee, T G Lee, H Chin, M E Adams, R H Scheller, R W Tsien,[...]. Proc Natl Acad Sci U S A 1999
K Jun, E S Piedras-Rentería, S M Smith, D B Wheeler, S B Lee, T G Lee, H Chin, M E Adams, R H Scheller, R W Tsien,[...]. Proc Natl Acad Sci U S A 1999
10
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali. J Med Genet 2004
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali. J Med Genet 2004
29
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Sian D Spacey, Luke A Materek, Blajez I Szczygielski, Thomas D Bird. Arch Neurol 2005
Sian D Spacey, Luke A Materek, Blajez I Szczygielski, Thomas D Bird. Arch Neurol 2005
23
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
Louise H Eunson, Tracey D Graves, Michael G Hanna. Neurology 2005
Louise H Eunson, Tracey D Graves, Michael G Hanna. Neurology 2005
40
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
Q Yue, J C Jen, S F Nelson, R W Baloh. Am J Hum Genet 1997
10
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.