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

Autor:	Al-Sharif F; Pediatrics, Saudi German Hospital Jeddah, Jeddah, SAU., Attiah FO; Medicine, King Abdulaziz University Hospital, Jeddah, SAU., AlKhateeb NA; Medicine, King Abdulaziz University Hospital, Jeddah, SAU., Taher HO; Medicine, Batterjee Medical College, Jeddah, SAU., Alamer MF; Medicine, Batterjee Medical College, Jeddah, SAU., Gazzaz RY; Medicine, Batterjee Medical College, Jeddah, SAU., Ba Sahel MO; Medicine, Batterjee Medical College, Jeddah, SAU., Alsharif RM; Medicine, College of Medicine, Umm Al-Qura University, Mecca, SAU.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2022 Oct 22; Vol. 14 (10), pp. e30577. Date of Electronic Publication: 2022 Oct 22 (Print Publication: 2022).
DOI:	10.7759/cureus.30577
Abstrakt:	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 ). Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Al-Sharif et al.)
Databáze:	MEDLINE
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