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Article

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

PloS one - 1 Jan 2017

Ortega-Moreno Laura, Giráldez Beatriz G, Soto-Insuga Victor, Losada-Del Pozo Rebeca, Rodrigo-Moreno María, Alarcón-Morcillo Cristina, Sánchez-Martín Gema, Díaz-Gómez Esther, Guerrero-López Rosa, Serratosa José M

Abstract excerpt

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...

Topics

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Child, Preschool
Developmental Disabilities
Epilepsy
ARX gene
CDKL5 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 29190809
DOI: 10.1371/journal.pone.0188978
PMCID: PMC5708701

Genes

ALG13
ARX
CDKL5
CHD2
GRIN1
KCNQ2
PCDH19
POLG
STXBP1
SYNGAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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