Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group

Autor: Letícia Pereira de Brito Sampaio, Adélia Maria de Miranda Henriques-Souza, Katia Lin, Lenycia de Cassya Lopes Neri, Luciana Midori Inuzuka, Ludmila Inácio de Lima Uchôa, Marcela Marques de Oliveira Gregório, Laura Maria Guilhoto, Maria Augusta Montenegro, Mariana Lunardi, Marielza Veiga, Patricia Azevedo de Lima, Vera Braatz

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 81, Iss 06, Pp 597-606 (2023)

Ketogenic dietary therapies (KDTs) are a safe and effective treatment for pharmacoresistant epilepsy in children. There are four principal types of KDTs: the classic KD, the modified Atkins diet (MAD), the medium-chain triglyceride (MCT) diet, and th

Externí odkaz: https://doaj.org/article/04bec5f0f45f42acb3d3e7028a972f13

Epileptic and developmental encephalopathies: clinical and genetic characterization

Autor: Luciana Midori Inuzuka Nakaharada

Publikováno v: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP

A encefalopatia epiléptica e do desenvolvimento (DEE) constitui um grupo de condições clínicas nas quais o desenvolvimento neuropsicomotor mostra-se alterado independentemente da epilepsia e, frequentemente, de causa genética. O objetivo deste e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43abee9a42ec4e1198b50ea861ce997d

MECP2-related conditions in males: A systematic literature review and 8 additional cases

Autor: Luiza Ramos, Lucia Sukys-Claudino, Luciana Midori Inuzuka, Sérgio A. Antoniuk, Rafaelle Batistella Pires, Sabrina Stephanie Lana Diniz, Fernando Kok, Lúcia Inês Macedo-Souza, Charles Marques Lourenço, Christiane C. Pedreira, Daniela Viana Pachito, Fabíola Paoli Monteiro, Leonardo Salvador Gaspar, Larissa Sampaio de Athayde Costa, Eliana Garzon, Matheus Guerra-Peixe, Ana Chrystina de Souza Crippa, Juliana Gurgel-Giannetti, Luis Paulo de Souza Dutra

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34

Objective 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b7d650c2f5829e30841fed5a8265ba
https://pubmed.ncbi.nlm.nih.gov/34271245

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

Autor: Luciana Midori Inuzuka, Luis Filipe de Souza Godoy, Eliana Garzon, Fernando Kok, Lúcia Inês Macedo-Souza, Katiane S. S. Cabral, Bruno Della-Ripa, Fabíola Paoli Monteiro, Daniel de Souza Delgado, João Paulo Kitajima

Publikováno v: Braindevelopment. 42(2)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57b382db07977a8bc6c6fc86f433e29
https://pubmed.ncbi.nlm.nih.gov/33608194

Ketogenic diet and modified Atkins diet in the treatment of intractable epilepsy in children and adults

Autor: Luciana Midori Inuzuka-Nakaharada

Publikováno v: Journal of Epilepsy and Clinical Neurophysiology, Volume: 14, Issue: 2, Pages: 65-69, Published: JUN 2008
Journal of Epilepsy and Clinical Neurophysiology v.14 n.2 2008
Journal of epilepsy and clinical neurophysiology
Liga Brasileira de Epilepsia (LBE)
instacron:LBE

INTRODUÇÃO: A dieta cetogênica (DC) e a dieta de Atkins modificada (DAM) são dietas terapêuticas mundialmente utilizadas no tratamento da epilepsia refratária em crianças e adultos. No Brasil estas modalidades de tratamento são pouco indicada

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdbbc050d908310b9b40028df2d0dd3d
https://doi.org/10.1590/s1676-26492008000200005