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

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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Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
 

Author(s): Susan E Tomlinson, S Veronica Tan, Dimitri M Kullmann, Robert C Griggs, David Burke, Michael G Hanna, Hugh Bostock

Journal: Brain. 2010 Dec;133(Pt 12):3530-40.

 

Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1. Episodic ataxia type 1 presents with brief episodes of cerebellar dysfunction and persistent neuromyotonia and is associated with an increased incidence ...

Last Updated: 3 Dec 2010

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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
 

Author(s): T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann

Journal: Neurology. 2010 Jul;75(4):367-72.

 

Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated ...

Last Updated: 27 Jul 2010

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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

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