{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:46Z","timestamp":1753861786341,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>In this paper, we report the treatment course, magnetic resonance imaging (MRI), and electroencephalography (EEG) findings of a two\u2010month\u2010old girl with <jats:italic>KCNQ2<\/jats:italic> epileptic encephalopathy caused by a de novo variant. The patient started having seizures 2\u2009days postnatally. Despite treatment with phenobarbital, phenytoin, levetiracetam, topiramate, clonazepam, vigabatrin, clobazam, and pyridoxine, she continued to have 10 or more seizures per day. EEG recordings showed multifocal epileptiform discharges with diffuse background slowing. MRI revealed left cerebellar hypoplasia. After lacosamide administration, the severity and frequency of seizures decreased by 80%. EEG recordings showed a significant improvement. A de novo heterozygous variant of c.1681C&gt;A (p.Pro561Thr) in the <jats:italic>KCNQ2<\/jats:italic> gene was detected. After carbamazepine add\u2010on treatment, the patient achieved seizure\u2010free status for about 2\u2009years. This case demonstrates the efficacy of lacosamide against <jats:italic>KCNQ2<\/jats:italic> epileptic encephalopathy. To our knowledge, this is the first report to document the association between cerebellar hypoplasia and <jats:italic>KCNQ2<\/jats:italic> variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.63909","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T13:19:57Z","timestamp":1728998397000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cerebellar Hypoplasia and Treatment Course of a Two\u2010Month\u2010Old Infant With <scp><i>KCNQ2<\/i><\/scp> Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8369-4914","authenticated-orcid":false,"given":"Dilek","family":"Cebeci","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0953-6210","authenticated-orcid":false,"given":"Busranur","family":"Cavdarli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Ozbudak","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Arhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kivilcim","family":"Gucuyener","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ercan","family":"Demir","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"issue":"12","key":"e_1_2_9_2_1","article-title":"A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups","volume":"14","author":"Alan S.","year":"2022","journal-title":"Cureus"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2017.0927"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0091270009347675"},{"issue":"1","key":"e_1_2_9_5_1","first-page":"90","article-title":"KCNQ2 Encephalopathy and Responsiveness to Pyridoxal\u20105'\u2010Phosphate","volume":"12","author":"Chow C. K.","year":"2020","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp-22-258"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-017-2406-1"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12200"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817701873"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.05.008"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200042"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000096"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-014-0301-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1315"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12984"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2017.08.005"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2020.105200"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.06.008"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.05.005"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12901"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63909","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T12:16:37Z","timestamp":1748348197000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,15]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/ajmg.a.63909"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63909","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,10,15]]},"assertion":[{"value":"2024-07-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63909"}}