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Episodic Ataxia Syndrome

ABSTRACT:

Individuals with episodic ataxia experience recurrent attacks of dizziness and incoordination; between attacks patients are typically normal. The majority of cases are likely caused by an inherited genetic mutation. However, in some patients we are unable to identify the mutation. So far, 2 genes have been identified which cause different types of episodic ataxia. Ultimately, when the actual mutation is identified the protein product of the gene can be studied and specific medications can be designed. During this study, we will clinically evaluate patients with EA and follow them over time to help us better characterize the disease. We will also obtain blood samples to test for the known genetic mutations. In the future, we plan to coordinate trials of medications for the treatment of these disorders.

PROVIDER: phs000521 | dbGaP |

SECONDARY ACCESSION(S): PRJNA183662PRJNA183663

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000521.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	phs000521.v1-Documents.zip	Other
	Study_Report.phs000521.CINCH_5302.v1.p1.MULTI.pdf	Pdf
	manifest_phs000521.CINCH_5302.v1.p1.c1.GRU-IRB-PUB.pdf	Pdf

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