LUCIANA MIDORI INUZUKA NAKAHARADA
Projetos de Pesquisa
Unidades Organizacionais
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
6 resultados
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- 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, ElianaSCN3A 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.
- MECP2-related conditions in males: A systematic literature review and 8 additional cases(2021) INUZUKA, Luciana Midori; GUERRA-PEIXE, Matheus; MACEDO-SOUZA, Lucia Ines; PEDREIRA, Christiane Cobas; GURGEL-GIANNETTI, Juliana; MONTEIRO, Fabiola Paoli; RAMOS, Luiza; COSTA, Larissa Athayde; CRIPPA, Ana Chrystina de Souza; LOURENCO, Charles Marques; PACHITO, Daniela Viana; SUKYS-CLAUDINO, Lucia; GASPAR, Leonardo Salvador; ANTONIUK, Sergio Antonio; DUTRA, Luis Paulo de Souza; DINIZ, Sabrina Stephanie Lana; PIRES, Rafaelle Batistella; GARZON, Eliana; KOK, FernandoObjective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). Results: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2- associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs*7) and p.(Tyr132Cys)] were detected. Conclusion: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.
- Parental germline mosaicism in SCN3A-related severe developmental disorder(2021) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; GUERRA-PEIXE, Matheus; PEDREIRA, Christiane Cobas; DELLA-RIPA, Bruno; DELGADO, Daniel Souza; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GARZON, Eliana; KOK, Fernando
- Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature (vol 42, pg 211, 2020)(2021) 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
- 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, FernandoIntroduction: 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.
- ATP6V1B2-related epileptic encephalopathy(2020) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPPA, Bruno; MONTEIRO, Fabiola Paoli; DELGADO, Daniel de Souza; GODOY, Luis Filipe; RAMOS, Luiza; COSTA, Larissa Sampaio de Athayde; GARZON, Eliana; KOK, FernandoATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acidhydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy(DDOD), a multiple malformation syndrome without cognitive involvement. Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in KCNH1) and Zimmermann-Laband syndrome-like (ZLSL) (associated with KCNK4 variants). Herein, we report a case of an infant with severe epileptic encephalopathy with microcephaly and profound developmental delay, associated with a novel de novo loss-of-function variant in ATP6V1B2, diagnosed by whole-exome sequencing. This finding expands the spectrum of ATP6V1B2-associated disorders and adds ATP6V1B2 as a new member for the growing list of early-onset epileptic encephalopathy genes.