Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings
Despite being challenging to treat epileptic encephalopathies associated with CACNA1A variants all patients initiated with antiepileptic therapy should be followed closely and monitored for control of seizure attacks. If EEG alone does not point out the diagnosis, appropriate investigations such as genetic studies should be considered. Early diagnosis is crucial for the prognosis of such kind of cases, especially in resource-limited settings where diagnostic equipments are scarce. All clinicians in these areas should have a high suspicion index in pediatric patients with recurrent seizure attacks to rule out epileptic encephalopathies.
Authors
- Hilary Chipongo (ORCID: https://orcid.org/0000-0002-1184-7077)
- Ronald Mclarty (ORCID: https://orcid.org/0000-0002-5459-9659)
- Samina Chaki
Institutions
- Aga Khan Hospital Dar es Salaam (TZ)
Publication Details
- Journal
- Case Reports in Neurology
- Published
- 2024-08-09
- DOI
- https://doi.org/10.1159/000540799
- Citations
- 1
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.39