Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

ABSTRACT:

Objective

Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.

Methods

Between January 2021 and June 2022, this cross-sectional study was conducted at six centers in India. Children with genetically confirmed IESS, without definite structural-genetic and structural-metabolic etiology, were recruited and underwent detailed in-person assessment for phenotypic characterization. The multicentric data on the genotypic and phenotypic characteristics of genetic IESS were collated and analyzed.

Results

Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 ha

SUBMITTER: Nagarajan B 

PROVIDER: S-EPMC10690684 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature