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

Jacinta Fonseca; C. Melo; C. FerreiraM. SampaioR. SousaM. Le?o

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

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

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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 hemipa-resis after seizures.

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《Journal of pediatric genetics》 |2023年第2期|155-158|共4页
作者
Jacinta Fonseca; C. Melo; C. FerreiraM. SampaioR. SousaM. Le?o;
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Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universitário de S?o Jo?o;

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正文语种英语
中图分类儿科学;
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RHOBTB2; early infantile epileptic encephalopathy-64; developmental and epileptic encephalopathy;

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

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