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RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report
| Content Provider | Scilit |
|---|---|
| Author | Fonseca, J. Melo, C. Ferreira, C. Sampaio, M. Sousa, R. Leão, M. |
| Copyright Year | 2021 |
| Description | Early infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures. |
| Related Links | http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1722288.pdf |
| ISSN | 21464596 |
| DOI | 10.1055/s-0040-1722288 |
| Journal | Journal of Pediatric Genetics |
| Language | English |
| Publisher | Georg Thieme Verlag KG |
| Publisher Date | 2021-02-02 |
| Access Restriction | Open |
| Subject Keyword | Journal: Journal of Pediatric Genetics Early Infantile Epileptic Encephalopathy-64 Developmental and Epileptic Encephalopathy |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics (clinical) Pediatrics, Perinatology and Child Health |
