ArticleJournal of medical case reports2026
The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report.
Article in Journal of medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundDevelopmental epileptic encephalopathy (DEE) is a severe neurodevelopmental disorder characterized by developmental delay, regression, and intractable seizures. Genetic testing plays a crucial role in identifying underlying pathogenic variants, guiding treatment, and improving patient outcomes, particularly in resource-limited settings. CASE PRESENTATION: A one-and-a-half-year-old Sri Lankan boy was assessed due to global developmental regression. He exhibited motor delays, with developmental milestones around 9-12 months, including the ability to form a pincer grasp and stand with support. He showed regression in speech and swallowing. By 15 months, he could speak single words, which had reduced to monosyllable babbling by the time of presentation. He was born to healthy, non-consanguineous parents and had a healthy sibling. He had an uncomplicated antenatal and perinatal history and had no history of seizures. His paternal uncle also had developmental delay and epilepsy. He was found to have electrical status epilepticus in sleep (ESES) in the electroencephalogram (EEG) recording, and genetic testing revealed a CACNA
conclusionPathogenic variants of CACNA
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