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

ABSTRACT:

Background and objective

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 phenotypic spectrum associated with different mutations.

Methods

15 affected individuals from four families underwent clinical, genetic and neurophysiological evaluation. The functional impact of new mutations identified in the KCNA1 gene was investigated with in vitro electrophysiology and immunocytochemistry.

Results

Detailed clinical documentation, dating back to 1928 in one family, indicates that all patients manifested episodic ataxia of varying severity. Four s

SUBMITTER: Tomlinson SE 

PROVIDER: S-EPMC4332158 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature