20 documents found, page 1 of 2

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Epigenetic Analysis of Long-term Epilepsy-Associated Tumors by Methylation-Spec...

Jesus-Ribeiro, Joana; Ribeiro, Ilda Patrícia; Pires, Luis Miguel; Rebelo, Olinda; Pereira, Ricardo; Bento, Conceição; Sales, Francisco; Santana, Isabel

Introduction: Ganglioglioma and dysembryoplastic neuroepithelial tumor represent the most common neoplasms in the group of long-term epilepsy-associated tumors. Mapping of epigenetic alterations, particularly DNA methylation, has recently been shown to offer promising perspectives in brain tumors, identifying key genes that may serve as potential diagnostic biomarkers. We aim to perform a genetic and epigenetic...

Date: 2024   |   Origin: SINAPSE

Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Monteiro, Isabel; Jesus-Ribeiro, Joana; B. Melo, Joana; Sales, Francisco; Geraldo, Argemiro

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep t...

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...


Population Pharmacokinetic Analysis of Perampanel in Portuguese Patients Diagno...

Silva, Rui; Colom, Helena; Bicker, Joana; Almeida, Anabela; Silva, Ana; Sales, Francisco; Santana, Isabel; Falcão, Amílcar; Fortuna, Ana

Perampanel is a promising antiepileptic drug (AED) for refractory epilepsy treatment due to its innovative mechanism of action. This study aimed to develop a population pharmacokinetic (PopPK) model to be further used in initial dose optimization of perampanel in patients diagnosed with refractory epilepsy. A total of seventy-two plasma concentrations of perampanel obtained from forty-four patients were analyze...


Unsupervised EEG preictal interval identification in patients with drug-resista...

Leal, Adriana; Curty, Juliana; Lopes, Fábio; Pinto, Mauro F.; Oliveira, Ana; Sales, Francisco; Bianchi, Anna M; Ruano, Maria G; Dourado, António

Typical seizure prediction models aim at discriminating interictal brain activity from pre-seizure electrographic patterns. Given the lack of a preictal clinical definition, a fixed interval is widely used to develop these models. Recent studies reporting preictal interval selection among a range of fixed intervals show inter- and intra-patient preictal interval variability, possibly reflecting the heterogeneit...


Unsupervised eeg preictal interval identification in patients with drug-resista...

Leal, Adriana; Curty, Juliana; Lopes, Fábio; Pinto, Mauro F.; Oliveira, Ana; Sales, Francisco; Bianchi, Anna M.; Ruano, Maria; Dourado, António

Typical seizure prediction models aim at discriminating interictal brain activity from pre-seizure electrographic patterns. Given the lack of a preictal clinical definition, a fixed interval is widely used to develop these models. Recent studies reporting preictal interval selection among a range of fixed intervals show inter- and intra-patient preictal interval variability, possibly reflecting the heterogeneit...


On the clinical acceptance of black-box systems for EEG seizure prediction

Pinto, Mauro F.; Leal, Adriana Costa; Lopes, Fábio; Pais, José; Dourado, António; Sales, Francisco; Martins, Pedro; Teixeira, César A.

Seizure prediction may be the solution for epileptic patients whose drugs and surgery do not control seizures. Despite 46 years of research, few devices/systems underwent clinical trials and/or are commercialized, where the most recent state-of- the- art approaches, as neural networks models, are not used to their full potential. The latter demonstrates the existence of social barriers to new methodologies due ...


Intracranial recordings in humans reveal specific hippocampal spectral and dors...

Castelhano, João; Duarte, Isabel; Bernardino, Inês; Pelle, Federica; Francione, Stefano; Sales, Francisco; Branco, Miguel Castelo

Invasive brain recordings using many electrodes across a wide range of tasks provide a unique opportunity to study the role of oscillatory patterning and functional connectivity. We used large-scale recordings (stereo EEG) within and beyond the human hippocampus to investigate the role of distinct frequency oscillations during real-time execution of visual, attention and memory tasks in eight epileptic patients...


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

Pharmacokinetic Monitoring of Levetiracetam in Portuguese Refractory Epileptic ...

Silva, Rui; Almeida, Anabela M.; Bicker, Joana; Gonçalves, Joana; Carona, Andreia; Silva, Ana; Santana, Isabel; Sales, Francisco; Falcão, Amílcar

Levetiracetam is a second-generation antiepileptic drug, widely used in the treatment of focal and generalized epilepsy due to its pharmacokinetic and safety profiles. Its pharmacokinetic monitoring is ascribed as useful to personalize its dosing regimen. The aim of the present study was to describe, for the first time, the pharmacokinetics of levetiracetam in Portuguese refractory epileptic patients. Therefore...


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