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Defo, Antoine; Verloes, Alain; Elenga, Narcisse
Molecular genetics & genomic medicine, June 2022, Letnik: 10, Številka: 6Journal Article
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 form of developmental and epileptic encephalopathy will eventually allow us to better understand the mechanism by which RHOBTB2 misregulation could induce severe and atypical neurological disorders.
