Epilepsy in dystrophinopathies: A retrospective cohort and review of the literature

Epilepsy Behav. 2024 Feb:151:109595. doi: 10.1016/j.yebeh.2023.109595. Epub 2024 Jan 5.

Abstract

Objective: This study aimed to assess the prevalence and characteristics of epilepsy in dystrophinopathies within a cohort of 142 patients at a tertiary neuromuscular center in Istanbul, Turkey.

Methods: We recorded the age at seizure onset, seizure type, family history, history of febrile seizures, treatment, and EEG results. Epilepsy was classified according to the latest International League Against Epilepsy (ILAE) classification.

Results: Of the 142 DMD patients, 8 experienced epileptic seizures (5.6 %). The median age of the patients was 11 years (8.0-15.2). The median age for the first DMD symptoms was 24 months (16.5-37.5). All seizures were consistent with generalized tonic-clonic seizures. Three patients are currently on anti-seizure medication.

Significance: The prevalence of epilepsy in our study (5.6 %) exceeds that of the general pediatric population (0.5-1 %). However, the frequency of febrile seizures in children with dystrophinopathy is similar to that of the general population.

Keywords: Child neurology; Dystrophinopathy; Epilepsy; Seizure.

Publication types

  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Electroencephalography
  • Epilepsy* / complications
  • Epilepsy* / diagnosis
  • Epilepsy* / epidemiology
  • Humans
  • Medical History Taking
  • Retrospective Studies
  • Seizures
  • Seizures, Febrile*