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Dravet syndrome: diverse seizure phenotypes with various triggers and developmental outcome- A case series from a

Aqsa Amjad1, Syeda Samnita Batool Zaidi1, Prem Chand2

  • 14th year MBBS Student, Aga Khan University Hospital, Karachi, Pakistan.

JPMA. the Journal of the Pakistan Medical Association
|June 9, 2026
PubMed

Insights

This case series details five Pakistani children diagnosed with Dravet syndrome (DS), a severe epilepsy. The study highlights varied seizure types, developmental delays, and behavioral issues, emphasizing the need for tailored management strategies for this rare genetic epilepsy.

Area of Science:

  • Pediatric Neurology
  • Epileptology
  • Clinical Genetics

Background:

  • Dravet syndrome (DS) is a severe, rare childhood epilepsy.
  • It is characterized by drug-resistant seizures, developmental delays, and behavioral issues.
  • SCN1A gene mutations are commonly associated with DS.

Purpose of the Study:

  • To describe the clinical presentation of Dravet syndrome in five Pakistani patients.
  • To highlight treatment challenges and variations in seizure control.
  • To document the first cases of DS in Pakistan and inform local management.

Main Methods:

  • Retrospective case series.
  • Analysis of clinical data from five patients at Aga Khan University Hospital, Karachi.
  • Review of seizure types, developmental and behavioral assessments, and treatment responses.

Main Results:

  • Five patients presented with difficult-to-control seizures, developmental delays, and behavioral disturbances.
  • Seizure types included focal clonic, myoclonic, atonic, and generalized clonic seizures.
  • Fever was a seizure trigger in three cases; varied treatment responses were observed.

Conclusions:

  • This study reports the first documented cases of Dravet syndrome in Pakistan.
  • Unique clinical manifestations and treatment challenges were observed in this cohort.
  • Findings enhance local understanding and inform management strategies for DS in Pakistan.

Keywords:
Dravet syndrome, SCN1A mutation, Treatmentresistant epilepsy.

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