Maria Thom
A5049258088- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Advanced Neuroimaging Techniques and Applications
- Neurogenesis and neuroplasticity mechanisms
- Neonatal and fetal brain pathology
- Drug Transport and Resistance Mechanisms
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Functional Brain Connectivity Studies
- Genomics and Rare Diseases
- Cerebrospinal fluid and hydrocephalus
- Neurological disorders and treatments
- Neuroscience of respiration and sleep
- Neuroinflammation and Neurodegeneration Mechanisms
- Ion channel regulation and function
- Hedgehog Signaling Pathway Studies
- Advanced MRI Techniques and Applications
- Diet and metabolism studies
- MicroRNA in disease regulation
- Tuberous Sclerosis Complex Research
- Autoimmune Neurological Disorders and Treatments
University College London
2016-2025
National Hospital for Neurology and Neurosurgery
2016-2025
University College Hospital
2024
Epilepsy Research UK
2002-2023
University of Southampton
2020-2021
Great Ormond Street Hospital
2002-2021
Nottingham University Hospitals NHS Trust
2021
University Hospitals Birmingham NHS Foundation Trust
2021
University of Cambridge
2021
Duke University
2020
Purpose: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and very frequently associated with epilepsy in both children adults. A broad spectrum histopathology has been included the diagnosis FCD. An ILAE task force proposes an international consensus classification system to better characterize specific clinicopathological FCD entities. Methods: Thirty-two Task Force members have reevaluated available data on electroclinical presentation, imaging,...
Abstract Preliminary clinical data indicate that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is associated with neurological and neuropsychiatric illness. Responding to this, a weekly virtual disease 19 (COVID-19) neurology multi-disciplinary meeting was established at the National Hospital, Queen Square, in early March 2020 order discuss begin understand presentations patients suspected COVID-19-related disorders. Detailed paraclinical were collected from cases...
Hippocampal sclerosis (HS) is the most frequent histopathology encountered in patients with drug-resistant temporal lobe epilepsy (TLE). Over past decades, various attempts have been made to classify specific patterns of hippocampal neuronal cell loss and correlate subtypes postsurgical outcome. However, no international consensus about definitions terminology has achieved. A task force reviewed previous classification schemes proposes a system based on semiquantitative that can be applied...
Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy.We report diagnoses made basis of resected specimens from 9523 patients who underwent epilepsy surgery in 36 centers 12 European countries over 25 years. Histopathological were determined through examination local hospitals (41%) or at German Neuropathology Reference Center Epilepsy Surgery (59%).The onset occurred before 18 years age 75.9%...
Epilepsy is resistant to drug treatment in about one‐third of cases, but the mechanisms underlying this resistance are not understood. In cancer, has been studied extensively. Amongst various mechanisms, overexpression proteins, such as multi‐drug gene‐1 P‐glycoprotein (MDR1) and multidrug resistance‐associated protein 1 (MRP1), shown correlate with cellular anticancer drugs. Previous studies human epilepsy have that MDR1 MRP1 may also be overexpressed brain tissue from patients refractory...
Phenytoin and carbamazepine are effective inexpensive anti-epileptic drugs (AEDs). As with many AEDs, a broad range of doses is used, the final “maintenance” dose normally determined by trial error. Although genes could influence response to these medicines, there obvious candidates. Both target α-subunit sodium channel, encoded SCN family genes. principally metabolized CYP2C9, both probable substrates drug transporter P-glycoprotein. We therefore assessed whether variation in associates...
See Bernasconi (doi:10.1093/aww202) for a scientific commentary on this article. Temporal lobe epilepsy, the most prevalent form of chronic focal is associated with high prevalence cognitive impairment but responsible underlying pathological mechanisms are unknown. Tau, microtubule-associated protein, hallmark several neurodegenerative diseases including Alzheimer's disease and traumatic encephalopathy. We hypothesized that hyperphosphorylated tau pathology decline in temporal epilepsy...
Abstract Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous research and consensus agreement to improve disease definition classification. An International League Against Epilepsy (ILAE) Task Force (TF) reviewed the FCD classification of 2011 identify existing gaps provide a timely update. The following methodology was applied achieve this goal: survey published literature indexed with ((Focal Cortical Dysplasia) AND (epilepsy)) between 01/01/2012 06/30/2021 (...
Dravet syndrome is an epilepsy of infantile onset, frequently caused by SCN1A mutations or deletions.Its prevalence, long-term evolution in adults and neuropathology are not well known.We identified a series 22 adult patients, including three post-mortem cases with syndrome.For all we reviewed the clinical history, seizure types frequency, antiepileptic drugs, cognitive, social functional outcome results investigations.A systematic study was performed, material from syndrome, comparison...
Around one-third of patients undergoing temporal lobe surgery for the treatment intractable epilepsy with hippocampal sclerosis (HS) fail to become seizure-free. Identifying reliable predictors poor surgical outcome would be helpful in management. Atypical patterns HS may associated poorer outcomes. Our aim was identify atypical cases from a large series and correlate pathology clinical data.Quantitative neuropathologic evaluation on 165 specimens 21 control hippocampi carried out...
The long-term pathological effects of chronic epilepsy on normal brain ageing are unknown. Previous clinical and epidemiological studies show progressive cognitive decline in subsets patients an increased prevalence Alzheimer's disease epilepsy. In a post-mortem series 138 with long-term, mainly drug-resistant epilepsy, we carried out Braak staging for neurofibrillary pathology using tau protein immunohistochemistry. stages were compared clinicopathological factors, including seizure history...
BRAF V600E mutations have been recently reported in glioneuronal tumors (GNTs). To evaluate the expression of mutated protein and its association with activation mammalian target rapamycin (mTOR) pathway, immunophenotype clinical characteristics GNTs, we investigated a cohort 174 GNTs. The presence was detected by direct DNA sequencing immunohistochemical detection. Expression BRAF-mutated 38/93 (40.8%) gangliogliomas (GGs), 2/4 (50%) desmoplastic infantile (DIGs) 23/77 (29.8%)...
Summary Epilepsy surgery is an effective treatment in many patients with drug‐resistant focal epilepsies. An early decision for surgical therapy facilitated by a magnetic resonance imaging ( MRI )—visible brain lesion congruent the electrophysiologically abnormal region. Recent advances pathologic diagnosis and classification of epileptogenic lesions are helpful clinical correlation, outcome stratification, patient management. However, application international consensus systems to common...