397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy

1999 ◽  
Vol 3 (6) ◽  
pp. A55 ◽  
Author(s):  
S.M. Zuberi ◽  
L.H. Eunson ◽  
M.G. Hanna ◽  
J.B.P. Stephenson ◽  
V. Ramesh
Keyword(s):  
Calcium Channel ◽  
Clinical Phenotype ◽  
Absence Epilepsy ◽  
Episodic Ataxia ◽  
Channel Gene ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation

2017 ◽  
Vol 381 ◽  
pp. 4-6 ◽  
Author(s):  
Mitsunori Shimmura ◽  
Taira Uehara ◽  
Kenichiro Yamashita ◽  
Hiroshi Shigeto ◽  
Ryo Yamasaki ◽  
...  
Keyword(s):  
Eye Movement ◽  
Smooth Pursuit ◽  
Episodic Ataxia ◽  
Smooth Pursuit Eye Movement ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: Hypothesis, family genealogy, gene typing and classification

Cephalalgia ◽  
2009 ◽  
Vol 30 (6) ◽  
pp. 740-743 ◽  
Author(s):  
C Cleves ◽  
S Parikh ◽  
AD Rothner ◽  
SJ Tepper
Keyword(s):  
Gene Mutations ◽  
Episodic Ataxia ◽  
New Classification ◽  
Hemiplegic Migraine ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
The Relationship ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

An association between hemiplegic migraine (HM) and episodic ataxia type 2 (EA2) has been described; both disorders are linked to mutations in the CACNA1A gene. Although confusion occurs in 21% of patients with HM, we found only one case in the literature of confusional episodes associated with ataxia without hemiplegia. These findings raise the possibility of confusional episodes being part of both the HM and EA2 phenotype. However, a patient with episodic ataxia, confusional spells and CACNA1A gene mutations has not been identified. We describe four individuals, spanning three generations of a family, with episodic ataxia without hemiplegia and confusion, in association with a CACNA1A mutation. We follow with a description of the relationship between the CACNA1A mutations and the three syndromes, suggesting a potential need for a new classification in which the conditions can be subsumed.

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

2014 ◽  
Vol 261 (5) ◽  
pp. 983-991 ◽  
Author(s):  
Wolfgang Nachbauer ◽  
Michael Nocker ◽  
Elfriede Karner ◽  
Iva Stankovic ◽  
Iris Unterberger ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Review Of The Literature ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

Novel splice site CACNA1A mutation causing episodic ataxia type 2

Neurogenetics ◽  
2004 ◽  
Vol 5 (1) ◽  
pp. 69-73 ◽  
Author(s):  
P.J. Miettinen ◽  
J. Vesa ◽  
A. Orpana ◽  
A. Palotie ◽  
M. F�rkkil� ◽  
...  
Keyword(s):  
Splice Site ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

2009 ◽  
Vol 13 (2) ◽  
pp. 191-193 ◽  
Author(s):  
D.I. Zafeiriou ◽  
F. Lehmann-Horn ◽  
E. Vargiami ◽  
E. Teflioudi ◽  
A. Ververi ◽  
...  
Keyword(s):  
Chronic Diarrhea ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

scholarly journals Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Cell ◽  
1996 ◽  
Vol 87 (3) ◽  
pp. 543-552 ◽  
Author(s):  
Roel A Ophoff ◽  
Gisela M Terwindt ◽  
Monique N Vergouwe ◽  
Ronald van Eijk ◽  
Peter J Oefner ◽  
...  
Keyword(s):  
Familial Hemiplegic Migraine ◽  
Episodic Ataxia ◽  
Hemiplegic Migraine ◽  
Channel Gene ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals In vivoimpact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

Brain ◽  
2016 ◽  
Vol 139 (2) ◽  
pp. 380-391 ◽  
Author(s):  
Susan E. Tomlinson ◽  
S. Veronica Tan ◽  
David Burke ◽  
Robyn W. Labrum ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Episodic Ataxia ◽  
Motor Axons ◽  
Episodic Ataxia Type 2 ◽  
Presynaptic Calcium ◽  
Episodic Ataxia Type

scholarly journals Missense CACNA1A Mutation Causing Episodic Ataxia Type 2

2001 ◽  
Vol 58 (2) ◽  
pp. 292 ◽  
Author(s):  
Christian Denier ◽  
Anne Ducros ◽  
Alexandra Durr ◽  
Bruno Eymard ◽  
Bénédicte Chassande ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

scholarly journals Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

2001 ◽  
Vol 68 (3) ◽  
pp. 759-764 ◽  
Author(s):  
Serena Guida ◽  
Flavia Trettel ◽  
Stefano Pagnutti ◽  
Elide Mantuano ◽  
Angelita Tottene ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Missense Mutation ◽  
Complete Loss ◽  
Episodic Ataxia ◽  
Channel Activity ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type
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