Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno, Beatriz G. Giráldez, Victor Soto-Insuga, Rebeca Losada Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M. Serratosa, Gustavo Lorenzo, Juan José García-Peñas, M. Luz Ruíz-Falcó, M. Angeles Pérez-Jiménez, Verónica Cantarín, Antonio Gil-Nagel, Rafael Toledano, Asunción García-Pérez, Alfonso Verdú, M. Carmen CarrascosaRosa Vivanco, Gemma Aznar, Judith Armstrong, Loreto Martorell, Carmen Fons, Angels García-Cazorla, Gema Arriola, María Vázquez, Mar García-Romero, Ana Pérez-Villena

    Research output: Contribution to journalArticleResearchpeer-review

    39 Citations (Scopus)


    © 2017 Ortega-Moreno et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel). Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5%) analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1). Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.
    Original languageEnglish
    Article numbere0188978
    JournalPLoS ONE
    Issue number11
    Publication statusPublished - 1 Nov 2017


    Dive into the research topics of 'Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes'. Together they form a unique fingerprint.

    Cite this