Queen Square Centre for Neuromuscular Diseases



Episodic Ataxia Syndrome (EA): Genotype-Phenotype correlation and longitudinal study

Sponsor University College London
Funder National Institutes of Health (NIH - USA)
CI Professor Michael Hanna
Sites London Queen Square
More information one and two


EA is a rare, genetic disease that causes repeated episodes of dizziness and incoordination.

The majority of cases are likely caused by an inherent genetic mutation. But in some patients the mutation is unidentifiable.

Study information

This is a multi-centre cross-sectional data collection and a prospective longitudinal study. EA is a chronic disease progressing over years rather than months. So patients will be followed at a yearly interval for two years.

Primary objective

  • to collect prospective standardised data to better define the clinical phenotype of the EAs
  • to find clinically relevant endpoints for use in therapeutic trials

The study will also:

  • Fully characterize the clinical spectra and the natural history of genetically defined EA.
  • Systematically investigate phenotypic differences between EA patients with KCNA1/CACNA1A mutations and those without.