De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.

ABSTRACT:

Background

The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749).

Methods

The child presented with convulsive syndrome on the third day of life. Generalized convulsive seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity. Proband WES expanded to trio sequencing was performed.

Results

A differential diagnosis was made between symptomatic (dysmetabolic, structural, infectious) neonatal seizures and benign neonatal seizures. There were no data in favor of the dysmetabolic, structural, or infectious nature o

SUBMITTER: Kochetkova TO 

PROVIDER: S-EPMC9956824 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature