Why the study?
Do nerve excitability studies help identify KCNA1 mutations in patients with atypical presentations of episodic ataxia type 1?
Do nerve excitability studies help identify KCNA1 mutations in patients with atypical presentations of episodic ataxia type 1?
Nerve excitability studies can be a useful diagnostic tool to identify KCNA1 mutations in patients with atypical presentations of episodic ataxia type 1.
May support nerve excitability testing to prompt KCNA1 screening in atypical cases; leaves open validation in larger cohorts.
Episodic ataxia type 1 (EA1) is caused by mutations in the KCNA1 gene encoding the fast potassium channel Kv1.1 and is characterized clinically by brief episodes of ataxia and continuous and spontaneous motor unit activity. Atypical presentations, in which the predominant manifestation is related to the peripheral nervous system, may lead to the diagnosis being missed or delayed, with the potential risk of individuals receiving inappropriate or unnecessary investigations and treatment. We present a case of a 15-year-old female with EA1 who had never had episodes of ataxia, and whose hand movements were initially thought to represent a tremor. Genetic screening for KCNA1 mutations was precipitated by the results of the nerve excitability studies (TROND protocol), which showed changes typical of reduced fast potassium channel conductance. This case highlights the utility of nerve excitability studies in identifying individuals with KCNA1 mutations.
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Tan et al. (2013) studied this question.
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