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KCNQ2 mutations are associated with various types of epilepsy as well as peripheral nerve hyperexcitability (PNH). We report a 12-year-old boy with a de novo in frame deletion in KCNQ2, presenting with muscle cramps without epilepsy. The present deletion has already been described in a patient with epilepsy but never associated with PNH. We give a detailed description of the clinical phenotype and provide hypothetical therapeutic options. Our case highlights the fact that potassium channelopathies must be considered in the differential diagnostic considerations of peripheral nerve hyperexcitability, even in the absence of seizures.

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How to Cite
De Wachter, M., Dielman, C., Moens, M., & Meuwissen, M. (2020). Peripheral nerve hyperexcitability without epilepsy: a rare presentation of a KCNQ2 mutation. Journal of the International Child Neurology Association, 1(1).


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