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 14 free, full-text research articles on human participants. First 3 results:

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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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
 

Author(s): 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, Dimitri M Kullmann, Michael G Hanna

Journal: J. Neurol. Neurosurg. Psychiatr.. 2013 Oct;84(10):1107-12.

 

Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the ...

Last Updated: 4 Sep 2013

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Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
 

Author(s): Paola Imbrici, Maria Cristina D'Adamo, Alessandro Grottesi, Andrea Biscarini, Mauro Pessia

Journal: Am. J. Physiol., Cell Physiol.. 2011 Jun;300(6):C1314-22.

 

Episodic ataxia type 1 (EA1) is an autosomal dominant disorder characterized by continuous myokymia and episodic attacks of ataxia. Mutations in the gene KCNA1 that encodes the voltage-gated potassium channel Kv1.1 are responsible for EA1. In several brain areas, Kv1.1 coassembles ...

Last Updated: 27 May 2011

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.