Article ; Online: Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
Molecular genetics & genomic medicine
2022 Volume 10, Issue 6, Page(s) e1929
Abstract: 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 ... ...
| Abstract | 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. |
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| MeSH term(s) | Epilepsy/genetics ; Epilepsy, Generalized ; French Guiana ; GTP-Binding Proteins/genetics ; Heterozygote ; Humans ; Infant ; Mutation ; Tumor Suppressor Proteins/genetics |
| Chemical Substances | RHOBTB2 protein, human ; Tumor Suppressor Proteins ; GTP-Binding Proteins (EC 3.6.1.-) |
| Language | English |
| Publishing date | 2022-03-21 |
| Publishing country | United States |
| Document type | Case Reports ; Letter |
| ZDB-ID | 2734884-2 |
| ISSN | 2324-9269 ; 2324-9269 |
| ISSN (online) | 2324-9269 |
| ISSN | 2324-9269 |
| DOI | 10.1002/mgg3.1929 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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