RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

Jacinta Fonseca; C Melo; C Ferreira; M Sampaio; R Sousa; M Leão

doi:10.1055/s-0040-1722288

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

J Pediatr Genet. 2021 Feb 2;12(2):155-158. doi: 10.1055/s-0040-1722288. eCollection 2023 Jun.

Authors

Jacinta Fonseca¹, C Melo¹, C Ferreira², M Sampaio¹, R Sousa¹, M Leão³

Affiliations

¹ Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de São João, Porto, Portugal.
² Department of Ophthalmology, Centro Hospitalar Vila Nova Gaia/Espinho, Espinho, Portugal.
³ Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal.

Abstract

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.

Keywords: RHOBTB2; developmental and epileptic encephalopathy; early infantile epileptic encephalopathy-64.

Publication types

Case Reports