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Article

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.

Cell reports - 7 Jan 2020

Frega Monica, Selten Martijn, Mossink Britt, Keller Jason M, Linda Katrin, Moerschen Rebecca, Qu Jieqiong, Koerner Pierre, Jansen Sophie, Oudakker Astrid, Kleefstra Tjitske, van Bokhoven Hans, Zhou Huiqing, Schubert Dirk, Nadif Kasri Nael

Abstract excerpt

Pathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder with clinical features of both intellectual disability (ID) and autism spectrum disorder (ASD). To understand how these variants lead to the phenotypic convergence in KSS, we employ a loss-of-function approach to...

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Identifiers

PMID: 31914384
DOI: 10.1016/j.celrep.2019.12.002

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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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