Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2 - A video case report

2008 ◽  
Vol 23 (9) ◽  
pp. 1314-1316 ◽  
Author(s):  
Matthias Löhle ◽  
Wiebke Schrempf ◽  
Martin Wolz ◽  
Heinz Reichmann ◽  
Alexander Storch
Keyword(s):  
Case Report ◽  
Potassium Channel ◽  
Channel Blocker ◽  
Episodic Ataxia ◽  
Potassium Channel Blocker ◽  
Episodic Ataxia Type 2 ◽  
Video Case Report ◽  
Cerebellar Symptoms ◽  
Episodic Ataxia Type

Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine

Neurology ◽  
2004 ◽  
Vol 62 (9) ◽  
pp. 1623-1625 ◽  
Author(s):  
M. Strupp ◽  
R. Kalla ◽  
M. Dichgans ◽  
T. Freilinger ◽  
S. Glasauer ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Channel Blocker ◽  
Episodic Ataxia ◽  
Potassium Channel Blocker ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2

2017 ◽  
Vol 376 ◽  
pp. 119-120 ◽  
Author(s):  
Štefan Sivák ◽  
Egon Kurča ◽  
Adriána Krajčiová ◽  
Martina Hikkelová ◽  
Juraj Šimko ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Variant ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

scholarly journals Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A

2021 ◽  
pp. 100334
Author(s):  
Lorenzo Verriello ◽  
Paola Carrera ◽  
Giada Pauletto ◽  
Andrea Bernardini ◽  
Mariarosaria Valente ◽  
...  
Keyword(s):  
Case Report ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Novel Variant ◽  
Episodic Ataxia Type

scholarly journals Differentiating episodic ataxia type 2 from migraine: a case report

2020 ◽  
Vol 26 (6) ◽  
pp. 526-527
Author(s):  
HJ Wu ◽  
WL Lau ◽  
Tina YC Chan ◽  
Sammy PL Chen ◽  
CH Ko
Keyword(s):  
Case Report ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals Case report of novel CACNA1A gene mutation causing episodic ataxia type 2

2017 ◽  
Vol 5 ◽  
pp. 2050313X1770604 ◽  
Author(s):  
David Alan Isaacs ◽  
Michael J Bradshaw ◽  
Kelly Brown ◽  
Peter Hedera
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Symptomatic Improvement ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
History Of ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%–50% of all patients with typical episodic ataxia type 2 phenotype have no detectable mutation of the CACNA1A gene. Case: A 46-year-old Caucasian man, with a long history of bouts of imbalance, vertigo, and nausea, presented to our hospital with 2 weeks of ataxia and headache. Subsequent evaluation revealed a novel mutation in the CACNA1A gene: c.1364 G > A Arg455Gln. Acetazolamide was initiated with symptomatic improvement. Conclusion: This case report expands the list of known CACNA1A mutations associated with episodic ataxia type 2.

scholarly journals Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

2017 ◽  
Vol 161 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Andrea Petrovicova ◽  
Miroslav Brozman ◽  
Egon Kurca ◽  
Tibor Gobo ◽  
Jana Dluha ◽  
...  
Keyword(s):  
Missense Variant ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

2010 ◽  
Vol 64 (2) ◽  
pp. 114-116 ◽  
Author(s):  
Julien Jung ◽  
Hervé Testard ◽  
Elisabeth Tournier-Lasserve ◽  
Florence Riant ◽  
Anne-Evelyne Vallet ◽  
...  
Keyword(s):  
Family Study ◽  
Phenotypic Variability ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type
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