{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T06:44:37Z","timestamp":1773384277047,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK \u2010 myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent <jats:italic>de novo<\/jats:italic> heterozygous mutation (c.959G&gt;A, p.Arg320His) in the <jats:italic>KCNC1<\/jats:italic> gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage\u2010gated potassium channels). Loss of Kv3 function disrupts the firing properties of fast\u2010spiking neurons, affects neurotransmitter release and induces cell death. Specifically regarding Kv3.1 malfunctioning, the most affected neurons include inhibitory GABAergic interneurons and cerebellar neurons. Impairment of the former cells is believed to contribute to myoclonus and seizures, whereas dysfunction of the latter to ataxia and tremor. Phenotypically, MEAK patients generally have a normal early development. At the age of 6 to 14 years, they present with myoclonus, which tends to progressively worsen with time. Tonic\u2010clonic seizures may or may not be present, and some patients develop mild cognitive impairment following seizure onset. Typical electroencephalographic features comprise generalized epileptiform discharges and, in some cases, photosensitivity. Brain imaging is either normal or shows cerebellar atrophy. The identification of MEAK has both expanded the phenotypic and genotypic spectra of PME and established an emerging role for <jats:italic>de novo<\/jats:italic> mutations in PME.<\/jats:p>","DOI":"10.1684\/epd.2016.0859","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":36,"title":["Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous <i>KCNC1<\/i> mutations"],"prefix":"10.1002","volume":"18","author":[{"given":"F\u00e1bio A.","family":"Nascimento","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Toronto Adult Epilepsy Genetics Program, University of Toronto, Toronto Western Hospital  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle M.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Toronto Adult Epilepsy Genetics Program, University of Toronto, Toronto Western Hospital  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80143-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198607313150506"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2008.01.015"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.1999.82.5.2476"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4695(199810)37:1<69::AID-NEU6>3.0.CO;2-6"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00043-5"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302958"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2013.264309"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.6572-10.2011"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076749"},{"issue":"2","key":"e_1_2_8_12_1","first-page":"S1","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1075"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/078538902320772124"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(00)01892-0"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.17-10-03425.1997"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3050"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2736(02)00576-X"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.140145"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:10:40Z","timestamp":1710778240000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":19,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0859"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0859","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}