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Article

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.

Journal of medical genetics - 1 Apr 2014

Alazami Anas M, Hijazi Hadia, Kentab Amal Y, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Epileptic encephalopathy is a broad clinical category that is highly heterogeneous genetically. OBJECTIVE: To describe a multiplex extended consanguineous family that defines a molecularly novel subtype of early infantile epileptic encephalopathy. METHODS: Autozygosity mapping and exome sequencing for the identification of the causal mutation. This was followed by expression analysis of the candidate...

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Source

Identifiers

PMID: 24399846
DOI: 10.1136/jmedgenet-2013-102030

Genes

NECAP1

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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