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Article

Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.

Molecular genetics & genomic medicine - 1 Jun 2022

Defo Antoine, Verloes Alain, Elenga Narcisse

Abstract excerpt

Here we report a case of developmental and epileptic encephalopathy related to RHOBTB2 gene mutation in a ten-month old infant in French Guiana. Although the 28 previously reported cases had early-onset epilepsy and severe intellectual disability, here the reported individual presented with late postnatal onset of microcephaly and the absence of cortical atrophy on MRI. The publication of cases of such a rare...

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PMID: 35315256
DOI: 10.1002/mgg3.1929
PMCID: PMC9184662

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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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