ArticleCureus2025
DEPDC5-Related Familial Focal Epilepsy With Variable Foci-1: A Report of a Rare Case.
Article in Cureus, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
Familial focal epilepsy with variable foci-1 (FFEVF1) is a genetic epilepsy syndrome associated with a pathogenic mutation in the DEPDC5 gene. It has autosomal dominant inheritance, along with incomplete penetrance and a variable phenotype. We present a case of focal seizures that progressed to generalized tonic-clonic seizures within the span of one year in a 12-month-old male child. A family history of epilepsy was present in the mother and grandmother of the child. Generalized epilepsy was observed in the initial EEG, while the MRI of the brain was unremarkable. Levetiracetam was unable to control the seizures; however, they were partially responsive to sodium valproate, which was prescribed later. A heterozygous pathogenic variant was revealed in exon 26 during whole-exome sequencing of the DEPDC5 gene. Family history and genetic testing can play crucial roles in pediatric epilepsy diagnosis, particularly when lab investigations and neuroimaging are normal, as showcased in this case.
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