Myokymia & Benign Neonatal Epilepsy (BFNS1)
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Overview
From WUSTL Neuromuscular●KCN Epidemiology: > 15 families Genetics Mutations: R207W; Missense or Deletion Allelic disorders Peripheral nerve hyperexcitability Other KCNQ2 Physiology: Mutation Shifts voltage dependence to more positive voltages Slows depolarization-induced activation Clinical Onset: Neonatal convulsions Myalgias: Childhood Myokymia Increased with age Exacerbated by: Fever, Cold, Alcohol & Pregnancy Distribution: Trunk; Limbs; Not face EMG Spontaneous discharges of grouped motor unit potentials Repetitive discharges after nerve stimulus Activity inhibited by NMJ blockade Treatment: Carbamazepine Neonata
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.