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Article

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

European journal of human genetics : EJHG - 1 Jun 2017

Redler Silke, Strom Tim M, Wieland Thomas, Cremer Kirsten, Engels Hartmut, Distelmaier Felix, Schaper Jörg, Küchler Alma, Lemke Johannes R, Jeschke Stephanie, Schreyer Nicole, Sticht Heinrich, Koch Margarete, Lüdecke Hermann-Josef, Wieczorek Dagmar

Abstract excerpt

For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID...

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Epilepsies, Myoclonic

Share to Genes, Recessive

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Source

Open in PubMed Open full text

Identifiers

PMID: 28422131
DOI: 10.1038/ejhg.2017.52
PMCID: PMC5520065

Genes

CPLX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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