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

ABSTRACT:

Objective

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 the phenotypic heterogeneity of EA1 in 2 sets of identical twins to determine the contribution of environmental factors to disease severity. One of the mutations was also found in a distantly related family, providing evidence of the influence of genetic background on the EA1 phenotype.

Methods

We evaluated 3 families with an EA1 phenotype, 2 of which included monozygotic twins. We sequenced the KCNA1 gene and studied the biophysical consequences of the mutations in HEK cells.

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SUBMITTER: Graves TD 

PROVIDER: S-EPMC2918890 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature