{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:54:44Z","timestamp":1762102484010,"version":"3.44.0"},"reference-count":2,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2020,2,9]]},"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:p>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: <jats:italic>KCNQ2<\/jats:italic> and <jats:italic>KCNA1<\/jats:italic>. Patients with <jats:italic>KCNQ2<\/jats:italic> 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 <jats:italic>KCNQ2<\/jats:italic> gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for <jats:italic>KCNQ2<\/jats:italic> variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels.<\/jats:p>","DOI":"10.1136\/practneurol-2019-002462","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T17:16:28Z","timestamp":1584465388000},"page":"253-255","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Facial myokymia in inherited peripheral nerve hyperexcitability syndrome"],"prefix":"10.1136","volume":"20","author":[{"given":"Clara Gontijo","family":"Camelo","sequence":"first","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 Macedo Serafim","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiane Ara\u00fajo Martins","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciro","family":"Matsui-J\u00fanior","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Otto","family":"Heise","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Department of Neurology, Federal University of Sao Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"2025090411254799000_20.3.253.1","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1212\/CON.0000000000000520","article-title":"Peripheral nerve hyperexcitability syndromes","volume":"23","author":"Sawlani","year":"2017","journal-title":"Continuum"},{"key":"2025090411254799000_20.3.253.2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000275523.95103.36"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2019-002462","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:25:55Z","timestamp":1757010355000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2019-002462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,17]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,6,2]]},"published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1136\/practneurol-2019-002462"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2019-002462","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2020,3,17]]}}}