TY - JOUR T1 - Facial myokymia in inherited peripheral nerve hyperexcitability syndrome JF - Practical Neurology JO - Pract Neurol DO - 10.1136/practneurol-2019-002462 SP - practneurol-2019-002462 AU - Clara Gontijo Camelo AU - André Macedo Serafim Silva AU - Cristiane Araújo Martins Moreno AU - Ciro Matsui-Júnior AU - Carlos Otto Heise AU - José Luiz Pedroso AU - Edmar Zanoteli Y1 - 2020/03/17 UR - http://pn.bmj.com/content/early/2020/03/17/practneurol-2019-002462.abstract N2 - Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: KCNQ2 and KCNA1. Patients with KCNQ2 gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. 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. ER -