ELIANA GARZON
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
19 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 19
- 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.
conferenceObject Hypomyelinating Leukodystrophy: Clinical, Electrophysiological and Neuroimaging Characterization(2012) FREITAS, M. R.; KOK, F.; BRENNER, C.; LEITE, C. C.; GARZON, E.; MANGINI, N. N.; AMORIM, S.- Is rolandic epilepsy really benign?(2014) GARZON, Eliana
- Modeling of post-traumatic epilepsy and experimental research aimed at its prevention(2021) MOSINI, A. C.; CALIO, M. L.; FORESTI, M. L.; VALERIANO, R. P. S.; GARZON, E.; MELLO, L. E.Research on the prevention of post-traumatic epilepsy (PTE) has seen remarkable advances regarding its physiopathology in recent years. From the search for biomarkers that might be used to indicate individual susceptibility to the development of new animal models and the investigation of new drugs, a great deal of knowledge has been amassed. Various groups have concentrated efforts in generating new animal models of traumatic brain injury (TBI) in an attempt to provide the means to further produce knowledge on the subject. Here we forward the hypothesis that restricting the search of biomarkers and of new drugs to prevent PTE by using only a limited set of TBI models might hamper the understanding of this relevant and yet not preventable medical condition.
- 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.
- Non-REM Sleep Instability in Children With Primary Monosymptomatic Sleep Enuresis(2017) SOSTER, Leticia Azevedo; ALVES, Rosana Cardoso; FAGUNDES, Simone Nascimento; LEBL, Adrienne; GARZON, Eliana; KOCH, Vera H.; FERRI, Raffaele; BRUNI, OlivieroStudy Objectives: Sleep enuresis is one of the most common sleep disturbances in childhood. Parental perception of deeper sleep in children with sleep enuresis is not confirmed by objective studies. However, evidence of disturbed sleep has been demonstrated by questionnaire, actigraphy, and polysomnographic studies, but no neurophysiological correlation with low arousability has been found. The goal of this study was to analyze the sleep microstructure of children with sleep enuresis using cyclic alternating pattern (CAP) analysis. Methods: Forty-nine children were recruited, 27 with enuresis (19 males and 8 females, mean age 9.78 years, 2.52 standard deviation) and 22 normal control patients (11 males and 11 females, mean age 10.7 years, 3.43 standard deviation); all subjects underwent clinical evaluation followed by a full-night polysomnographic recording. Psychiatric, neurological, respiratory, and renal diseases were excluded. Results: No differences in sex, age, and apnea-hypopnea index were noted in the patients with enuresis and the control patients. Sleep stage architecture in children with sleep enuresis showed a decrease in percentage of stage N3 sleep. CAP analysis showed an increase in CAP rate in stage N3 sleep and in phase A1 index during stage N3 sleep in the sleep enuresis group, but also a significant reduction of A2% and A3% and of phases A2 and A3 indexes, supporting the concept of decreased arousability in patients with sleep enuresis. The decrease of phase A2 and A3 indexes in our patients might reflect the impaired arousal threshold of children with sleep enuresis. Sleep fragmentation might result in a compensatory increase of slow wave activity (indicated by the increase of CAP rate in stage N3 sleep) and may explain the higher arousal threshold (indicated by a decrease of phase A2 and A3 indexes) linked to an increased sleep pressure. Conclusions: The findings of this study indicate the presence of a significant disruption of sleep microstructure (CAP) in children with sleep enuresis, supporting the hypothesis of a higher arousal threshold.
- 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
- Biperiden for prevention of post-traumatic epilepsy: A protocol of a double-blinded placebo-controlled randomized clinical trial (BIPERIDEN trial)(2022) FORESTI, Maira Licia; GARZON, Eliana; PINHEIRO, Carla Cristina Gomes; PACHECO, Rafael Leite; RIERA, Rachel; MELLO, Luiz EugenioBackground Traumatic brain injury (TBI) is one of the most important causes of acquired structural epilepsy, post-traumatic epilepsy (PTE), however, efficient preventative measures and treatment are still not available to patients. Preclinical studies indicated biperiden, an anticholinergic drug, as a potential drug to modify the epileptogenic process. The main objective of this clinical trial is to evaluate the efficacy of biperiden as an antiepileptogenic agent in patients that suffered TBI. Methods This prospective multicenter (n = 10) interventional study will include 312 adult patients admitted to emergency care units with a diagnosis of moderate or severe TBI. Following inclusion and exclusion criteria, patients will be randomized, using block randomization, to receive double-blind treatment with placebo or biperiden for 10 days. Follow-up will occur at specific time windows up to 2 years. Main outcomes are incidence of PTE after TBI and occurrence of severe adverse events. Other outcomes include exploratory investigation of factors that might have benefits for the treatment or might influence its results, such as genetic background, clinical progression, electroencephalographic abnormalities, health-related quality of life and neuropsychological status. Analyses will be conducted following the safety, intention-to-treat and efficacy concepts. Discussion We hypothesize that biperiden treatment will be effective to prevent or mitigate the development of post-traumatic epilepsy in TBI patients. Other health measures from this population also may benefit from treatment with biperiden.
- 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.