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Article

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Journal of medical genetics - 1 Mar 2017

Edvardson Simon, Murakami Yoshiko, Nguyen Thi Tuyet Mai, Shahrour Maher, St-Denis Anik, Shaag Avraham, Damseh Nadira, Le Deist Françoise, Bryceson Yenan, Abu-Libdeh Bassam, Campeau Philippe M, Kinoshita Taroh, Elpeleg Orly

Abstract excerpt

BACKGROUND: Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search for disease causing genes using homozygosity mapping was progressing slowly until 2010, then markedly accelerated by the introduction of exome analysis. OBJECTIVES: To identify the disease causing mutation(s) in three patients from two unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27694521
DOI: 10.1136/jmedgenet-2016-104202

Genes

PIGC
GPI

Variants

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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