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.

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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
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article

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

Hilary Chipongo, Ronald Mclarty, Samina Chaki
1 citations
Case Reports in Neurology
Epilepsy research and treatment
0.39
article

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

Hilary Chipongo, Ronald Mclarty, Samina Chaki
article en
1 citations

Abstract

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.

Case Reports in NeurologyVol. 16(1)
Aga Khan Hospital Dar es Salaam (TZ)
No poverty
Openalex Percentile: Top 37%
Epilepsy research and treatment
0.39
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Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings — Hilary Chipongo, Ronald Mclarty, et al. · Case Reports in Neurology (2024) | TGRS Research Map | TGRS