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

Autores da FMUP

• João De Almeida Lopes Da Fonseca

  Autor

• Cândida Manuela Ferreira Abreu

  Autor

Participantes de fora da FMUP

• Melo, C.
• Sampaio, M
• Sousa, R
• Leao, M

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Medicina

• Medicina da Comunidade, Informação e Decisão em Saúde

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

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.

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Keywords

• RHOBTB2; developmental and epileptic encephalopathy; early infantile epileptic encephalopathy-64