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Advanced Neurology

ORIGINAL RESEARCH ARTICLE
Unraveling genetic contributions to

neurodevelopmental disorders and epilepsy in a
pediatric cohort from a Mexican state

Norma Elena de León-Ojeda 1,2† , Adonis Estévez-Perera 2,3† , and
2,4
Alioth Guerrero-Aranda *
1 Department of Genetic, CRIT-Occidente, Guadalajara, Jalisco, Mexico
2 Epilepsy Clinic, Hospital “Country 2000,” Guadalajara, Jalisco, Mexico
3 Department of Rehabilitation, Center for Health Studies, Guadalajara, Jalisco, Mexico
4 Department of Health Sciences, Los Valles University Center, University of Guadalajara, Ameca,
Jalisco, Mexico
(This article belongs to the Special Issue: Advances in the pathogenesis, diagnosis and treatment of epilepsy)

Abstract
Neurodevelopmental disorders (NDDs) encompass a broad spectrum of conditions that
significantly impact personal, social, academic, or occupational functioning from an
early age. Epilepsy emerges as a significant comorbid condition, featuring a complex
†These authors contributed equally interplay between neurodevelopmental processes and epileptogenesis, likely rooted
to this work.
in genetic abnormalities. This research is a descriptive observational study designed to
*Corresponding author: assess the contribution of genetic variations to the clinical presentation of NDDs in a
Alioth Guerrero-Aranda
(alioth.garanda@academicos.udg. pediatric population from the Mexican state of Jalisco, aiming to enhance diagnostic and
mx) management strategies. The patients underwent comprehensive clinical evaluations and
Citation: de León-Ojeda NE, personalized genetic testing using next-generation sequencing techniques, and their
Estévez-Perera A, Guerrero-Aranda relatives were studied only on a case-by-case basis if information regarding the mode
A. Unraveling genetic contributions of inheritance was needed. This study included 24 patients and 30 relatives. Diagnoses
to neurodevelopmental disorders
and epilepsy in a pediatric cohort of Mendelian inheritance diseases were identified in 14 patients, including cases with
from a Mexican state. Adv Neuro. mutations not previously associated with NDDs. Genetic testing revealed a variety of
2024;3(2):3359. pathogenic and likely pathogenic mutations, as well as variants of uncertain significance,
doi: 10.36922/an.3359 across a range of genes implicated in NDDs. Notable findings included new mutations
Received: April 4, 2024 related to low-prevalence genetic syndromes and the identification of both inherited and
Accepted: May 27, 2024 de novo mutations contributing to the neurodevelopmental phenotypes observed. Our
findings underscore the complex genetic landscape of NDDs and epilepsy, highlighting
Published Online: June 13, 2024 the crucial role of genetic evaluation in elucidating the etiology of these disorders within
Copyright: © 2024 Author(s). the studied population. The integration of genetic testing into the diagnostic process for
This is an Open-Access article NDDs not only facilitates a more precise diagnosis but also informs prognostic outlooks
distributed under the terms of the
Creative Commons Attribution and guides tailored intervention strategies. Moreover, this study advocates for the
License, permitting distribution, continued exploration of genetic underpinnings in NDDs to further refine diagnostic
and reproduction in any medium, accuracy, improve therapeutic approaches, and support familial decision-making, and
provided the original work is
properly cited. emphasizing the importance of genetics in advancing neurodevelopmental medicine.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: Neurodevelopmental disorders; Genetic variations; Next-generation
regard to jurisdictional claims in
published maps and institutional sequencing; Epilepsy; Seizures
affiliations.

Volume 3 Issue 2 (2024) 1 doi: 10.36922/an.3359