16 documents found, page 1 of 2

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Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture

Ferreira dos Santos, Mafalda; Laço, Mário; Robalo, Conceição; Palavra, Filipe

Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is characterized by stimulus-induced myoclonus and seizures without major progressive cognitive deficit, usually presenting during late childhood and early adolescence. It is an autosomal recessive disease, and, so far, only pathogenic variants in the gene encoding cystatin B (CSTB) have been described. We report the case of a...

Date: 2024   |   Origin: SINAPSE

Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...

Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina Maria Gonçalves; Robalo, Conceição; Rito, Manuel; Pereira, Ricardo

Introduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...


Clinical predictors of NEDA-3 one year after diagnosis of pediatric multiple sc...

Palavra, Filipe; Silva, Diogo; Fernandes, Catarina; Faustino, Ricardo; Vasconcelos, Mónica; Pereira, Cristina; Costa, Carmen; Ribeiro, Joana Afonso

Introduction: Multiple sclerosis (MS) is an inflammatory and demyelinating disorder of central nervous system that can be diagnosed in pediatric age (<18 years) in 3–5% of the cases. This early onset is associated with higher relapse rates and earlier progression to neurological disability. By using NEDA-3 (No Evidence of Disease Activity-3) criteria, we aimed to identify clinical predictors associated with abs...


Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...

Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina; Robalo, Conceição; Rito, Manuel; Pereira, Ricardo; Costa, José Augusto

Introduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...

Date: 2022   |   Origin: Acta Médica Portuguesa

DEPDC5 variant in focal cortical dysplasia: a case report and review of the lit...

Ribeiro, Joana de Jesus; Pereira, Cristina Duarte; Robalo, Conceição; Pereira, Daniela J.; Duro, Diana; Ramos, Fabiana; Freire, António; Melo, Joana B.

Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatibl...


Gelastic seizures : a retrospective study in five tertiary hospital centres

Amorim, Isabel Loução de; Pereira, Cristina; Sequeira, João; Rocha, Helena; Peralta, Ana Rita; Rego, Ricardo; Bentes, Carla; Bento, Conceição

Copyright © 2020 John Libbey Eurotext; This study aimed to characterize, clinically and neurophysiologically, a series of patients with gelastic seizures (GS), including both adults and children. We retrospectively collected patients with GS from epilepsy clinics of five tertiary hospital centres within a single country. Patients were selected through relatives'/caregivers' descriptions, home video and/or video...


Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the ...

Romão Luz, Inês; Pereira, Cristina; Garcia, Paula; Ferreira, Fátima; Faria, Ana; Macedo, Cristiane; Diogo, Luísa; Robalo, Conceição

Introduction: Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the die...

Date: 2019   |   Origin: Acta Médica Portuguesa

Ketogenic diet for refractory childhood epilepsy: beyond seizures control, the ...

Romão Luz, Inês; Pereira, Cristina; Garcia, Paula; Ferreira, Fátima; Faria, Ana; Macedo, Cristiane; Diogo, Luisa; Robalo, Conceição

Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the diet and adverse ...


Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patie...

Palavra, Filipe; Robalo, Conceição; Reis, Flávio

Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR) signall...


Febre escaro-nodular com envolvimento neurológico e hepatite

Brett, Ana; Fonseca, Margarida; Fineza, Isabel; Sousa, Rita; Robalo, Conceição; Rodrigues, Fernanda

Introdução: A febre escaro-nodular é geralmente uma doença benigna e auto-limitada, em particular em idade pediátrica. Têm sido descritas manifestações neurológicas em adultos, mas estas são raras na criança, não existindo nenhum caso descrito em Portugal. Caso clínico: Adolescente de 12 anos, previamente saudável, que recorreu ao Serviço de Urgência por alteração do estado de consciência e sinais neurológicos ...


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