LUCIA INES MACEDO DE SOUZA

(Fonte: Lattes)
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Instituto Central, Hospital das Clínicas, Faculdade de Medicina

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Assunto: Epilepsy ×

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  • article 14 Citação(ões) na Scopus
    Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
    (2020) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPA, Bruno; CABRAL, Katiane S. S.; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GODOY, Luis Filipe de Souza; DELGADO, Daniel de Souza; KOK, Fernando; GARZON, Eliana
    SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction.
  • article 10 Citação(ões) na Scopus
    Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
    (2020) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPA, Bruno; MONTEIRO, Fabiola Paoli; RAMOS, Luiza; KITAJIMA, Joao Paulo; GARZON, Eliana; KOK, Fernando
    Introduction: KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. Case report: We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. Discussion: Whole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies.