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[Neurodevelopmental impact of a mutation in the RHOBTB2 gene].

Revue medicale de Liege - 1 Jul 2024

Beckers Martin, Stevens René, Debray François-Guillaume, Leroy Patricia

Abstract excerpt

RHOBTB2 was first described as epileptogenic when it presents a missense variant in 2016 and studied more specifically in 2018. It is a gene that causes rare, but potentially severe childhood epileptic encephalopathy. In 2021, research confirmed that heterozygous mutations of RHOBTB2 included other clinical signs besides these encephalopathies. Thus, these infantile epilepsies are mainly associated with highly...

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PMID: 39129541

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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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