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

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

Jacinta Fonseca  1 , C Melo  1 , C Ferreira  2 , M Sampaio  1 , R Sousa  1 , M Leão  3
Affiliations
Case Reports

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

Jacinta Fonseca et al. J Pediatr Genet. .

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.

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Conflict of interest statement

Conflict of Interest None declared.

References

    1. Scheffer I E, Berkovic S, Capovilla G. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(04):512–521. - PMC - PubMed
    1. Scheffer I E, Liao J. Deciphering the concepts behind “epileptic encephalopathy” and “developmental and epileptic encephalopathy.”. Eur J Paediatr Neurol. 2020;24:11–14. - PubMed
    1. McTague A, Howell K B, Cross J H, Kurian M A, Scheffer I E. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016;15(03):304–316. - PubMed
    1. Happ H C, Carvill G LA. A 2020 view on the genetics of developmental and epileptic encephalopathies. Epilepsy Curr. 2020;20(02):90–96. - PMC - PubMed
    1. Hamaguchi M, Meth J L, von Klitzing C. DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci USA. 2002;99(21):13647–13652. - PMC - PubMed

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