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Article

Mutations in HECW2 are associated with intellectual disability and epilepsy.

Journal of medical genetics - 1 Oct 2016

Halvardson Jonatan, Zhao Jin J, Zaghlool Ammar, Wentzel Christian, Georgii-Hemming Patrik, Månsson Else, Ederth Sävmarker Helena, Brandberg Göran, Soussi Zander Cecilia, Thuresson Ann-Charlotte, Feuk Lars

Abstract excerpt

BACKGROUND: De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions. METHODS: Exome sequencing was performed on 39 patient-parent trios to identify de novo mutations. Clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27334371
DOI: 10.1136/jmedgenet-2016-103814
PMCID: PMC5099177

Genes

HECW2

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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