{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T22:37:12Z","timestamp":1792708632230,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T00:00:00Z","timestamp":1724457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>CHD2\u2010related epilepsy is characterized by early\u2010onset photosensitive myoclonic epilepsy with developmental delay and a high rate of pharmacoresistance. We sought to evaluate the efficacy of acetazolamide (ACZ) in CHD2\u2010related epilepsy, due to ACZ's unexpected efficacy in our first patient harboring a pathogenic <jats:italic>CHD2<\/jats:italic> variant. We collected patients from different Eastern European countries with drug\u2010resistant CHD2\u2010related epilepsy who were then treated with ACZ. Patients underwent video EEG before and during ACZ treatment. In a zebrafish model of CHD2\u2010related epilepsy, ictal\u2010like events were recorded 5\u2009days post\u2010fertilization after overnight ACZ exposure. Developmental delay preceded the onset of seizures in 10 of the 12 patients. Four had ataxia, and 6 exhibited autistic features. Seizures, primarily myoclonic, began at an average age of 3.4\u2009years and were photosensitive in all 12 patients. Add\u2010on ACZ treatment controlled photosensitive seizures in all patients: 6 became seizure\u2010free, and in the remaining 6, seizure frequency decreased by over 75%. Four patients transitioned to ACZ monotherapy. The median follow\u2010up was 13\u2009months. In the zebrafish model, ACZ exposure reduced ictal\u2010like events by 72%. ACZ, a well\u2010tolerated and cost\u2010effective medication, could be a good option for CHD2\u2010related epilepsy, predominantly manifesting with myoclonic seizures and photosensitivity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>Epilepsy associated with <jats:italic>CHD2<\/jats:italic> mutations is often pharmacoresistant and associated with developmental delay and eventually ataxia. There are several generalized seizure types, including generalized tonic\u2013clonic seizures, but the most characteristic are jerks triggered by light stimulation. We collected 12 patients who received acetazolamide, a drug usually given as a diuretic and registered as a mild antiseizure medication. All jerks triggered by light disappeared while the frequency of spontaneous seizures decreased by over 75%. Further studies are needed to confirm this promising finding and identify the mechanism by which an old compound seems to have such a specific antiseizure effect.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.13034","type":"journal-article","created":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T14:25:15Z","timestamp":1724509515000},"page":"1972-1980","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Effectiveness of add\u2010on acetazolamide in children with drug\u2010resistant CHD2\u2010related epilepsy and in a zebrafish CHD2 model"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5651-5981","authenticated-orcid":false,"given":"Gia","family":"Melikishvili","sequence":"first","affiliation":[{"name":"MediClubGeorgia Medical Center  Tbilisi Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini\"  Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genova  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Shojeinia","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM) University of Oslo  Oslo Norway"},{"name":"Institute for Orphan Drug Discovery  Bremerhaven Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Gachechiladze","sequence":"additional","affiliation":[{"name":"MediClubGeorgia Medical Center  Tbilisi 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