Genetic testing for infantile-onset epilepsies in resource-limited settings.

Document Type

Article

Publication Date

10-2025

Identifier

DOI: 10.1016/j.spen.2025.101204

Abstract

Infantile-onset epilepsies, a heterogenous group of epilepsies with onset up to two years of age, constitute a significant burden in developing countries and frequently result from various genetic variations. The phenomena of genetic heterogeneity and phenotypic pleiotropy are observed across epilepsy syndromes of infantile-onset epilepsies. In the current era of precision-based medicine, early genetic diagnosis and targeted management can significantly influence epilepsy and developmental outcomes. Despite rapid advancement in genetic testing, access to genetic diagnostic facilities is a global challenge, especially in resource-limited settings. The major barriers to genetic diagnosis are high costs, limited access to specialized laboratories, and the need for expert interpretation. Nevertheless, strategies like targeted gene panels, collaborations with reference laboratories, and clinical phenotyping can help maximize the diagnostic yield while considering resource constraints. Investments in infrastructure, policy support, and international collaboration can bridge the gap and ensure that affected children receive timely and accurate diagnoses. This review discusses the importance, challenges, and potential strategies for integrating genetic testing in resource-limited environments, emphasizing the need for affordable and accessible solutions that can enhance patient care.

Journal Title

Seminars in pediatric neurology

Volume

55

First Page

101204

Last Page

101204

MeSH Keywords

Humans; Genetic Testing; Developing Countries; Infant; Resource-Limited Settings

PubMed ID

41076304

Keywords

Infantile epilepsy spasms syndrome; Myoclonic epilepsy; West syndrome

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