Episodic ataxia type 1

Common Name(s)

Episodic ataxia type 1

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia ({13:Jen et al., 2007}). Genetic Heterogeneity of Episodic Ataxia Episodic ataxia is a genetically heterogeneous disorder. See also EA2 ({108500}), caused by mutation in the CACNA1A gene ({601011}) on chromosome 19p13; EA3 ({606554}), which maps to chromosome 1q42; EA4 ({606552}); EA5, caused by mutation in the CACNB4 gene ({601949}) on chromosome 2q22-q23; EA6 ({612656}), caused by mutation in the SLC1A3 gene ({600111}) on chromosome 5p13; EA7 ({611907}), which maps to chromosome 19q13; and EA8 ({616055}), which maps to chromosome 1p36-p34. Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene ({602235}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Episodic ataxia type 1" for support, advocacy or research.

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National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Episodic ataxia type 1" for support, advocacy or research.

Logo
National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

http://www.ataxia.org

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Episodic ataxia type 1" returned 16 free, full-text research articles on human participants. First 3 results:

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
 

Author(s): Pawel Tacik, Kimberly J Guthrie, Audrey J Strongosky, Daniel F Broderick, Douglas L Riegert-Johnson, Sha Tang, Dima El-Khechen, Alexander S Parker, Owen A Ross, Zbigniew K Wszolek

Journal: Mayo Clin. Proc.. 2015 Mar;90(3):366-71.

 

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare ...

Last Updated: 6 Mar 2015

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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
 

Author(s): 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,

Journal: Brain. 2014 Apr;137(Pt 4):1009-18.

 

Episodic ataxia type 1 is considered a rare neuronal ion channel disorder characterized by brief attacks of unsteadiness and dizziness with persistent myokymia. To characterize the natural history, develop outcome measures for future clinical trials, and correlate genotype with phenotype, ...

Last Updated: 20 Mar 2014

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Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
 

Author(s): S Veronica Tan, Elizabeth Wraige, Karine Lascelles, Hugh Bostock

Journal: Dev Med Child Neurol. 2013 Oct;55(10):959-62.

 

Episodic ataxia type 1 (EA1) is caused by mutations in the KCNA1 gene encoding the fast potassium channel Kv1.1 and is characterized clinically by brief episodes of ataxia and continuous and spontaneous motor unit activity. Atypical presentations, in which the predominant manifestation ...

Last Updated: 10 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Episodic ataxia type 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.