Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings.

ABSTRACT:

Introduction

Epilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characterized by epileptic activity itself impairing cognitive and behavioral function more than what is expected from the underlying pathology alone. Epileptic encephalopathy resulting from the CACNA1A variant is extremely challenging to treat and prognosis is poor if prompt diagnosis is not made.

Case presentation

This is a 7-year-old male patient of African descent with a history of recurrent seizures since infancy. He has been kept on several anticonvulsants without success to control seizure attacks. The patient had more than three a

SUBMITTER: Chipongo H 

PROVIDER: S-EPMC11521477 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature