Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report

Abstract

Epilepsy is a neurological condition brought on by recurrent and spontaneous seizures in patients with hypersynchronous neuronal ensemble activity. These spontaneous seizures appear to be brought on by increased neuronal excitability and synaptic synchronization. The development of neuronal hyperexcitability and acquiring epilepsy is still poorly understood. Cell differentiation and development might be related to the pumilio RNA-binding family member 1 (Pumilio 1 ( PUM1 )). Complete deficiency of this gene causes misregulation of the proteins involved in the control of neuronal excitability. Furthermore, the voltage-gated sodium channels alpha subunit 2 ( SCN2A ) triggers action potentials in brain neurons, and a variety of severe hereditary epilepsy syndromes are caused by their mutation. Here, we present a rare case of a seven-year-old female with co-occurrence of two genetic mutations in the pumilio homolog 1 ( PUM1 ) and sodium voltage-gated channel alpha subunit 2 ( SCN2A ).