# DEPDC5-Related Familial Focal Epilepsy With Variable Foci-1: A Report of a Rare Case

## TL;DR

A rare case of familial focal epilepsy in a young child is linked to a mutation in the DEPDC5 gene, highlighting the importance of genetic testing in diagnosing epilepsy.

## Contribution

This paper reports a rare case of DEPDC5-related familial focal epilepsy with variable foci in a pediatric patient.

## Key findings

- A 12-month-old male child with focal seizures progressing to generalized seizures was found to have a DEPDC5 gene mutation.
- The child's seizures were partially controlled with sodium valproate after being unresponsive to levetiracetam.
- Family history and genetic testing were key in diagnosing the condition despite normal MRI and EEG results.

## 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.