{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T23:59:00Z","timestamp":1778543940117,"version":"3.51.4"},"reference-count":14,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2009&gt;\u2009T), 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.<\/jats:p>","DOI":"10.1055\/s-0040-1722288","type":"journal-article","created":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T19:30:39Z","timestamp":1612294239000},"page":"155-158","source":"Crossref","is-referenced-by-count":3,"title":["RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report"],"prefix":"10.53391","volume":"12","author":[{"given":"Jacinta","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"C.","family":"Melo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"C.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Centro Hospitalar Vila Nova Gaia\/Espinho, Espinho, Portugal"}]},{"given":"M.","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"R.","family":"Sousa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatric, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"M.","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, 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