A Case Series of Epilepsy Syndromes with Varied Genetic Findings Related to the Phenotype: In an Eastern India–Based Tertiary Care Hospital

Background: The course of epileptic syndromes and their response to the accessible treatments vary. To recommend appropriate preventative measures, it is helpful to comprehend these genetic–phenotypic pattern.

Methods: Epilepsy patients attending our Neuromedicine OPD with cluster of clinical and electroencephalographic (EEG) features, with unidentified causes were enlisted, of which 8 patients satisfied the consideration measures, were selected, and went through Whole Exome Sequencing in a tertiary care referral center in Eastern India from January to March 2023.

Results: WES findings were documented in 8 patients. KCNQ2, GRIN2A, CACNA1E, HCFC1, CUX2, KCNB1, ADGRV1, SCARB2, CHD2, and USHIC were identified in the study group. Demographically 62.5% (5) were male. The average age of those presented was 6 years 10.5 months. 12.5% (1) patients had seizures set off by fever. Around 37.5% (3) had suffered from developmental delay and 33% (1 out of 3) of those patients also had regression of milestones. All (100%) the patients had epileptiform discharges in their electroencephalogram (EEG). 37.5% (3) of the patients had progressive myoclonic epilepsy and 50% (4) had developmental and epileptic encephalopathies.

Conclusions: Wide genetic variety was recognized for epileptic syndromes by WES. WES yielded pathogenic, likely pathogenic related or unrelated to the phenotype. Identification of these genotypic–phenotypic variations and subsequently trying to recognize a pattern can guide both preventive and therapeutic measures of these epilepsy syndromes in future.

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Artikel online veröffentlicht:
12. September 2024