A5001848078- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Cannabis and Cannabinoid Research
- EEG and Brain-Computer Interfaces
- Neonatal and fetal brain pathology
- Tuberous Sclerosis Complex Research
- Metabolism and Genetic Disorders
- Polyomavirus and related diseases
- Cardiovascular Syncope and Autonomic Disorders
- Memory and Neural Mechanisms
- Histiocytic Disorders and Treatments
- Glioma Diagnosis and Treatment
- Cystic Fibrosis Research Advances
- Ion channel regulation and function
- Genomics and Rare Diseases
- Neurological disorders and treatments
- Sleep and Wakefulness Research
- Bacterial Infections and Vaccines
- Neuroscience and Neural Engineering
- Neurological Complications and Syndromes
- Functional Brain Connectivity Studies
- Glycogen Storage Diseases and Myoclonus
- Fetal and Pediatric Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
University Medical Center Freiburg
2017-2025
University of Freiburg
2017-2025
University Hospital Bonn
2024-2025
Goethe University Frankfurt
2024
Alberta Children's Hospital
2024
University of Calgary
2024
Alberta Children’s Hospital Foundation
2024
Klinik für Neuropädiatrie und Muskelerkrankungen
2017-2023
University of Saskatchewan
2009
Abstract Objective Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox‐Gastaut (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes. Methods In a retrospective multicenter study, we analyzed the efficacy tolerability CBD in patients with at 16 centers. Results The study cohort comprised 311 median age 11.3 (0‐72) years (235 children adolescents, 76 adults). Therapy was off‐label 91.3% cases...
To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015.We collected information on volumes types surgery, pathology, seizure outcome from 20 recognized reference centers 10 countries.We analyzed retrospective aggregate data 1859 operations. The proportion surgeries significantly increased over time (P < .0001). Engel class I was achieved 69.3% children, with no significant improvement 2015. histopathological findings consistent glial scars the ages...
Abstract Interictal epileptiform discharges (IEDs) are a widely used biomarker in patients with epilepsy but lack specificity. It has been proposed that there truly epileptogenic and less pathological or even protective IEDs. Recent studies suggest highly IEDs characterized by high-frequency oscillations (HFOs). Here, we aimed to dissect these ‘HFO-IEDs’ at the single-neuron level, hypothesizing underlying mechanisms distinct from ‘non-HFO-IEDs’. Analysing hybrid depth electrode recordings...
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760–1:13,520 live births in Germany. On the molecular level, TSC caused by heterozygous loss-of-function variants either genes TSC1 or TSC2 , encoding Tuberin-Hamartin complex, which acts as critical upstream suppressor mammalian target rapamycin (mTOR), key signaling pathway controlling cellular growth and metabolism. Despite therapeutic...
Abstract The use of cannabidiol ( CBD ) for treatment pharmacoresistant epilepsies is increasing. metabolized via UDP‐glucuronosyltransferase (UGT) and cytochrome 450 (CYP) enzymes, but information on interactions with common anticonvulsive drugs incomplete. We report a case series five patients receiving adjunctive who showed increases in brivaracetam BRV levels by 95% to 280%. Only two reported mild adverse events, leading reduction one patient. One possible mechanism contributing at least...
Identification of children at risk developing epilepsy after a first unprovoked seizure can be challenging. Interictal epileptiform discharges are associated with higher but have limited sensitivity and specificity. High frequency oscillations (HFOs) newer biomarkers for epileptogenesis. We prospectively evaluated the predictive value HFOs in scalp electroencephalogram (EEG) seizure.After their seizure, 56 were followed over 12 months then grouped "epilepsy" or "no epilepsy." Initial EEGs...
Abstract Objective Dravet syndrome (DS) is a rare but severe drug‐resistant epilepsy. Before the approval of fenfluramine (FFA) for treatment seizures in DS, patients Germany could receive under compassionate use program (CUP). Methods We conducted multicenter, retrospective, observational study to describe efficacy, tolerability, and retention FFA within CUP. Patients received add‐on therapy with oral gradually titrated target dose between .13 .7 mg/kg/day. Results Overall, 78 DS (median...
Although epilepsy surgery is the only curative therapeutic approach for lesional drug-resistant (DRE), there reluctance to operate on infants due a fear of complications. A recent meta-analysis showed that in first 6 months life can achieve seizure control about two thirds children. However, robust data surgical complications and postoperative cognitive development are lacking. We performed retrospective multicenter study who underwent life. 15 at median age 134 days (IQR: 58) four centers....
This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts mental health problems caregiver burden on quality.This multicenter, cross-sectional DS their throughout Germany consisted a questionnaire prospective 4-week diary querying disease characteristics, demographic data, living conditions, nocturnal supervision, caregivers' work situations. Sleep was using Pittsburgh Sleeping Quality Index (PSQI). The Hospital Anxiety Depression Scale...
Hypothalamic hamartomas (HHs) are associated with pharmacoresistant epilepsy. Stereotactic radiofrequency thermocoagulation (SRT) shows promise as a disconnecting intervention. Although magnetic resonance imaging (MRI) is typically used to determine the attachment and intervention side, it presents challenges in cases of bilaterally attached HH, where epileptogenic side unclear. The lateralizing potential electroclinical parameters such remains uncertain. This retrospective study evaluates...
This study was undertaken to evaluate retention and treatment characteristics of cenobamate (CNB) in patients with developmental epileptic encephalopathies (DEEs) clinical practice. multicenter, retrospective cohort recruited all DEEs who started CNB between October 2020 April 2023 at participating epilepsy centers. A total 41 (mean age = 28.3 ± 13.1 years, median 26 range 4-73 years; 24 male [58.5%]) were treated CNB. Of these, 33 had Lennox-Gastaut syndrome, seven tuberous sclerosis...
In randomised controlled trials, adjunctive cenobamate (CNB) has been shown to reduce seizure frequency in patients with drug-resistant focal epilepsy. Studies conducted real-world settings provide valuable complementary data further characterise the drug's profile. To assess efficacy, retention and tolerability of (CNB), identify factors that might predict these outcomes clinical treatment epilepsies. This multicentre, retrospective cohort study included all who began CNB between October...
Abstract Objective Epilepsy surgery is a standard treatment for drug‐resistant epilepsy, resulting in seizure freedom significant number of cases. Although frequently performed low‐grade brain tumors, it rarely considered high‐grade despite the impact chronic epilepsy on quality life and cognition. Methods This retrospective multicenter study across 43 European centers evaluated outcomes children with tumors (World Health Organization grades III IV). Two cohorts patients younger than 25...
Lennox-Gastaut syndrome (LGS) and Dravet (DS) are rare debilitating forms of epilepsy, characterised by recurrent, severe, drug-resistant seizures neurodevelopmental impairments. A non-euphoric, plant-derived, highly purified formulation cannabidiol (CBD; Epidyolex®, 100 mg/mL oral solution) is approved in the European Union United Kingdom for use patients aged ≥2 years adjunctive treatment associated with LGS or DS conjunction clobazam (CLB), tuberous sclerosis complex years. We performed a...
Objective: Controlled and open label trials have demonstrated efficacy of cannabidiol for certain epileptic encephalopathies. However, plant derived products been used almost exclusively. Efficacy synthetically has not studied before. The objective this study was to evaluate tolerability synthetic in patients with pharmacoresistant epilepsy. Methods: In prospective, open-label (DRKS00013177), epilepsy received addition their previously stable anticonvulsive treatment. Starting dose...
Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as cause an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, movement disorders resulting from cerebellar dysfunction. In addition, with a milder course epilepsy, complicated hereditary spastic paraplegia, episodic ataxia reported. By analyzing phenotypic, functional, genetic data...
Cannabidiol has been shown to be effective in seizure reduction patients with Dravet syndrome, Lennox–Gastaut and tuberous sclerosis. However, very little is known about its potential reduce interictal epileptiform activity improve sleep architecture. The objective of this prospective study was evaluate the influence cannabidiol therapy on frequency discharges (IEDs) microstructure a cohort children drug-resistant epilepsy. Children epilepsy were prospectively followed from November 2019...
Abstract Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs cost-driving factors associated with various organ manifestations in TSC patients. Methods A validated, three-month, retrospective questionnaire was administered to assess sociodemographic clinical characteristics, manifestations, direct, indirect, out-of-pocket, nursing...
The approval of everolimus (EVE) for the treatment angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents first disease-modifying option available this rare genetic disorder. objective study was to analyse use, efficacy, tolerability retention EVE TSC Germany from patient's perspective. A structured cross-age survey conducted at 26 specialised centres by German patient advocacy group...
This study was undertaken to evaluate the long-term safety, tolerability, and efficacy of adjunctive brivaracetam (BRV) treatment in pediatric patients with epilepsy.A phase 3, open-label, multicenter, follow-up trial (N01266; NCT01364597) conducted on (aged 1 month <17 years at core entry; direct enrollers aged 4 years) treated BRV. Outcomes included treatment-emergent adverse events (TEAEs), behavior assessments (Achenbach Child Behavior Checklist [CBCL], Rating Inventory Executive...
The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) caregivers' knowledge about sudden unexpected death epilepsy (SUDEP).
Abstract Objective The increasingly rapid pace of advancement in genetic testing may lead to inequalities technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare Complex Epilepsies EpiCARE conducted survey addressing several aspects accessibility, availability, costs, standard practices across ERN centers. Methods An online Google form was sent 70 representatives Descriptive statistics qualitative...