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J Pediatr Genet 2023; 12(02): 155-158
DOI: 10.1055/s-0040-1722288
Case Report

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

Jacinta Fonseca
1   Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de São João, Porto, Portugal
,
C. Melo
1   Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de São João, Porto, Portugal
,
C. Ferreira
2   Department of Ophthalmology, Centro Hospitalar Vila Nova Gaia/Espinho, Espinho, Portugal
,
M. Sampaio
1   Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de São João, Porto, Portugal
,
R. Sousa
1   Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de São João, Porto, Portugal
,
M. Leão
3   Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal
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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 - early infantile epileptic encephalopathy-64 - developmental and epileptic encephalopathy


Publication History

Received: 30 June 2020

Accepted: 23 November 2020

Article published online:
02 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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