Paula Marques

ORCID: 0000-0003-1303-9273
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About
Contact & Profiles
Research Areas
  • Epilepsy research and treatment
  • Neurology and Historical Studies
  • Pharmacological Effects and Toxicity Studies
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Mental Health and Psychiatry
  • Genetic Neurodegenerative Diseases
  • Glycogen Storage Diseases and Myoclonus
  • Mitochondrial Function and Pathology
  • Stroke Rehabilitation and Recovery
  • Tuberous Sclerosis Complex Research
  • Fungal Infections and Studies
  • Metabolism and Genetic Disorders
  • Neurological disorders and treatments
  • History of Medicine Studies
  • Neonatal and fetal brain pathology
  • Autoimmune Neurological Disorders and Treatments
  • Genetic and Kidney Cyst Diseases
  • EEG and Brain-Computer Interfaces
  • T-cell and Retrovirus Studies
  • Genomic variations and chromosomal abnormalities
  • Parkinson's Disease Mechanisms and Treatments
  • Musculoskeletal pain and rehabilitation
  • Infectious Encephalopathies and Encephalitis
  • Historical Psychiatry and Medical Practices

University of Toronto
2020-2025

Hamilton Health Sciences
2025

McMaster University
2024-2025

Ontario Brain Institute
2025

Krembil Research Institute
2021-2025

Toronto Western Hospital
2020-2025

University Health Network
2020-2024

Burlington College
2024

Krembil Brain Institute
2024

Hospital de Clínicas Universidade Federal do Paraná
2017-2023

<h3>Background and Objectives</h3> Relative to the pediatric population, there is limited information about Dravet syndrome (DS) in adults. In addition some of gait abnormalities reported children with DS (such as crouch ataxia), adults this condition have other motor disturbances. Our primary objective was examine manifestations DS. <h3>Methods</h3> This study includes a prospective arm where 6 patients (mean age, 32 years) were examined through modified version Unified Parkinson9s Disease...

10.1212/wnl.0000000000200341 article EN cc-by-nc-nd Neurology 2022-04-13

Abstract Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers adults with DS often complain about loss previously acquired skills. We set out to explore these perceptions determine whether abnormalities reported were detectable validated tests. also investigated possible correlations between symptoms, age, exposure sodium channel blockers (SCBs). Methods This cross‐sectional, multicenter...

10.1111/epi.18329 article EN cc-by-nc-nd Epilepsia 2025-03-04

Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis clinical, but ~90% of patients have pathogenic variants in SCN1A . ATP6V0C has recently been proposed as novel candidate gene for epilepsy, with or without delay. Here we describe two adult clinical diagnosis DS associated variants. Methods Patients encephalopathies were evaluated by physicians who are experts DS, their was correlated genetic findings. A subgroup those known causes through...

10.1111/epi.18346 article EN cc-by-nc-nd Epilepsia 2025-03-14

Epilepsy is a complex condition and seizures are only one part of this disease. The move from pediatric to adult healthcare system proves difficult for many adolescents with epilepsy their families. challenges increase when patients have epilepsies associated intellectual and/or developmental disabilities, autism spectrum disorder, motor disorders. Knowledge gaps may exist between the two systems, adding challenges. main goal study understand perception families who were preparing or had...

10.1016/j.yebeh.2024.109624 article EN cc-by-nc Epilepsy & Behavior 2024-01-13

Introduction: Hashimoto's encephalopathy is an unusual condition that associated with thyroiditis. Myoclonus, epileptic seizures, dementia, and disturbances of consciousness are the most common features. Case report: We present atypical case in a 33-year-old woman who presented several brief acute psychotic episodes. After treatment steroids, there was improvement patient's psychiatric symptoms electroencephalogram, antithyroglobulin antibody titers returned to normal levels. Conclusions: It...

10.1097/psy.0b013e31803174c0 article EN Psychosomatic Medicine 2007-02-01

Abstract Objective Dravet syndrome (DS) is a rare cause of severe and pharmacoresistant epileptic encephalopathy. Stiripentol (STP) has significant therapeutic benefit in the pediatric DS population. However, STP effects on adult patients have not been well studied. In our STP‐naive patient population, initiation was associated with encephalopathy, despite decreases valproate clobazam dosage. Here we explored treatment encephalopathic manifestations adults. Methods Twenty‐eight confirmed...

10.1111/epi.16684 article EN Epilepsia 2020-10-21

Abstract Epilepsies are a group of common neurological disorders with substantial genetic basis. Despite this, the molecular diagnosis epilepsies remains challenging due to its heterogeneity. Studies utilizing whole-genome sequencing may provide additional insights into causes unknown aetiology. Whole-genome was used evaluate cohort adults unexplained developmental and epileptic encephalopathies (n = 30), for whom prior tests, including whole-exome in some cases, were negative or...

10.1093/braincomms/fcab207 article EN cc-by-nc Brain Communications 2021-01-01

Background: Cortical myoclonus originates at cerebral cortex, predominantly occurring on voluntary movements. Few case reports described usage of Acetazolamide (ACZ) for myoclonus. Methods: Chart review 2 patients was performed. Literature conducted and ACZ using Pubmed. Results: 22-year-old female diagnosed with Progressive Myoclonic Epilepsy (PME) secondary to a KCNC1 mutation. Her symptoms started 10 years old bilateral tonic clonic seizures (BTCS), later developing progressive ataxia...

10.1017/cjn.2024.156 article EN Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2024-05-24

ABSTRACT Jean-Martin Charcot, the founder of modern neurology and leading figure in international 19th century, died on August 16, 1893, province Morvan French countryside, at age 67. The funeral service was held Paris La Salpêtrière Hospital, Charcot buried Montmartre cemetery same city.

10.1590/0004-282x20170144 article EN cc-by-nc Arquivos de Neuro-Psiquiatria 2017-11-01

There are few data on adults living with tuberous sclerosis complex (TSC), most studies focusing pediatric populations. The objective of our study was to examine a large national cohort TSC, and describe the clinical characteristics these nature multidisciplinary care that they receive.Six Canadian medical centers collaborated in this study. Data were collected using standardized form, descriptive statistics used for analyses.Our included 181 definite TSC (mean age = 33.6 years [SD 13.7])....

10.1111/epi.17159 article EN Epilepsia 2021-12-29

ABSTRACT Jean-Martin Charcot, the most celebrated neurologist of 19th century, had a profound influence on Sigmund Freud's career. Freud spent winter 1885-1886 working in Charcot's neurology department Paris. During this period, he went to house several occasions participate very famous Tuesday soirées under guidance Gilles de la Tourette. was always proud be invited and curious meet Parisian intellectual elite. On these occasions, however, apprehensive made frequent use cocaine. Due anxiety...

10.1590/0004-282x20190052 article EN cc-by Arquivos de Neuro-Psiquiatria 2019-11-01

In recent decades, considerable advances have been made in the treatment of acute ischemic stroke (IS) and its prevention. However, even after treatment, approximately two-thirds patients with IS some degree disability that requires rehabilitation, along an increased possibility developing psychiatric disorders, particularly depression.To determine predictors post-stroke depression a 6-month period IS.Ninety-seven without previous were included study. The study protocol was applied during...

10.47626/2237-6089-2022-0589 article EN cc-by-nc Trends in Psychiatry and Psychotherapy 2023-01-01

ABSTRACT Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant in world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had seminal participation definition this more than 40 years ago.

10.1590/0004-282x20170127 article EN cc-by-nc Arquivos de Neuro-Psiquiatria 2017-10-01

ABSTRACT Professor Charcot had several pupils in his famous neurological service at the Salpêtrière Hospital Paris, France. Among them, Édouard Brissaud was one of Charcot’s favorite pupils, temporarily becoming successor after death. Brissaud’s contributions were significant, including description hemifacial spasm, “geste antagoniste” dystonia, pseudobulbar affect, post-traumatic stress disorder, Brissaud-Sicard syndrome, and sign. Additionally, first to suggest that Parkinson’s disease...

10.1590/0004-282x20180063 article EN cc-by-nc Arquivos de Neuro-Psiquiatria 2018-07-01

The aim of this historical note is to review the relationship between Freud and Charcot influence had on Freud's career.

10.1212/wnl.90.15_supplement.p5.309 article EN Neurology 2018-04-10
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