{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:12:55Z","timestamp":1778303575757,"version":"3.51.4"},"reference-count":0,"publisher":"Pakistan Medical Association","issue":"05","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pak Med Assoc"],"abstract":"<jats:p>Dravet syndrome (DS) is a severe childhood epilepsy characterised by drug-resistant seizures, developmental delays, and behavioural disturbances, often linked to de novo mutations in the SCN1A gene. This retrospective case series from Aga Khan University Hospital, Karachi, describes five patients with varying ages of seizure onset and difficult-to-control seizures despite conventional anti-seizure medications. Seizure types included focal clonic evolving into myoclonic, atonic, and generalised clonic seizures, with fever identified as a trigger in three cases. Developmental delays were universal, ranging from speech impairment to motor deficits. Behavioural issues such as aggression and autism spectrum traits were also observed. Treatment involved combinations of Valproic acid, Clobazam, Levetiracetam, Topiramate, and Cannabidiol, with varying responses. This study marks the first documented cases of DS in Pakistan, highlighting unique clinical manifestations and treatment challenges in this setting, thereby enhancing local understanding and management strategies for DS.\nKeywords: Dravet syndrome, SCN1A mutation, Treatment-resistant epilepsy.<\/jats:p>","DOI":"10.47391\/jpma.30512","type":"journal-article","created":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T19:11:04Z","timestamp":1777662664000},"page":"807-810","source":"Crossref","is-referenced-by-count":0,"title":["Dravet syndrome: diverse seizure phenotypes with various triggers and developmental outcome- A case series from a LMIC"],"prefix":"10.47391","volume":"76","author":[{"family":"Aqsa Amjad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Syeda Samnita Batool Zadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Prem Chand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"26547","published-online":{"date-parts":[[2026,5,1]]},"container-title":["Journal of the Pakistan Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/30512\/4777","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/30512\/4777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T04:51:23Z","timestamp":1778302283000},"score":1,"resource":{"primary":{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/view\/30512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,1]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2026,5,1]]}},"URL":"https:\/\/doi.org\/10.47391\/jpma.30512","relation":{},"ISSN":["0030-9982"],"issn-type":[{"value":"0030-9982","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5,1]]}}}