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Article

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

American journal of medical genetics. Part A - 1 Nov 2011

Harrison Victoria, Connell Lyndsey, Hayesmoore Jesse, McParland Joanna, Pike Michael G, Blair Edward

Abstract excerpt

Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin. There has been one case in the literature of a patient with a heterozygous deletion in NRXN1 on one allele and a nonsense mutation on the other allele, reported to have a Pitt Hopkins-like phenotype. We report on...

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Source

Identifiers

PMID: 21964664
DOI: 10.1002/ajmg.a.34255

Genes

NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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