Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

We report a woman with marked facial myokymia and distal upper limb contractures whose mother also had subtle facial myokymia; both had the c.G620A (p.R207Q) variant in the KCNQ2 gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for KCNQ2 variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels. PMID: 32184343 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32184343?dopt=Abstract

Source: Practical Neurology - March 16, 2020 Category: Neurology Authors: Camelo CG, Silva AMS, Moreno CAM, Matsui-Júnior C, Heise CO, Pedroso JL, Zanoteli E Tags: Pract Neurol Source Type: research