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Article

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

Clinical genetics - 1 May 2017

Webster R, Cho M T, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond G V, Johnson M R, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung W K

Abstract excerpt

Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have been identified on the X chromosome, including KIAA2022. KIAA2022 is located on Xq13.3 and is expressed in the developing brain. The protein product of KIAA2022, X‐linked Intellectual Disability Protein Related to Neurite Extension (XPN), is developmentally...

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Identifiers

PMID: 27568816
DOI: 10.1111/cge.12854

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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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