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Article

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy research - 1 Feb 2018

Myers Kenneth A, White Susan M, Mohammed Shehla, Metcalfe Kay A, Fry Andrew E, Wraige Elisabeth, Vasudevan Pradeep C, Balasubramanian Meena, Scheffer Ingrid E

Abstract excerpt

Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features. Seizures are reported in approximately a third of cases; however, the epileptology has not been...

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Source

Identifiers

PMID: 29367179
DOI: 10.1016/j.eplepsyres.2018.01.014

Genes

ASXL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.PMID 29367179Read ↗

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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.Semantic proximity Read ↗

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.Semantic proximity Read ↗

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Semantic proximity Read ↗

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