PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation.

ABSTRACT:

Introduction

PRRT2 is a major causative gene for self-limited familial neonatal-infantile epilepsy, paroxysmal kinesigenic dyskinesia, and paroxysmal kinesigenic dyskinesia with infantile convulsions. Voluntary movement trigger is prominent in adolescence and adulthood, but the triggers are unknown in infants.

Methods

A gene panel designed for targeted next-generation sequencing (NGS) was used to screen genetic abnormalities in a cohort of 45 cases with infantile convulsions. The copy number variation was detected by a computational method based on the normalized depth of coverage and validated by a quantitative real-time polymerase chain reaction (RT-qPCR) method. The genotype-phenotype correlation of the PRRT2 mutation gene was analyzed.

Results

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SUBMITTER: Liu DT 

PROVIDER: S-EPMC9361874 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature