Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.

Genetic heterogeneity: ion channelopathies, GLUT1 deficiency, progressive myoclonic epilepsies

Forty Egyptian pediatric patients with drug-resistant epilepsy without surgical etiology underwent exome sequencing identifying potentially pathogenic variants in 31 different genes, including 15 novel variants. Genetic diagnosis refined classification and guided therapy for several patients, notably for ion channelopathies, progressive myoclonic epilepsies, and GLUT1 deficiency. Newly identified genes included MYCBP2 and BAZ2B, recently linked to genetic epilepsy, expanding their spectrum in Arab populations.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This cohort illustrates the transformative impact of exome sequencing in DRE without surgical lesions: genetic diagnosis directs concrete therapeutic decisions. Identification of MYCBP2 and BAZ2B in an Arab cohort expands the molecular spectrum of these undercharacterized genes in non-European populations.

Clinical impact: 2/3 · Evidence quality: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Journal quality: 0/1 → Total: 6/10