A5029594653- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- EEG and Brain-Computer Interfaces
- Zebrafish Biomedical Research Applications
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Cardiovascular Syncope and Autonomic Disorders
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Cannabis and Cannabinoid Research
- Pharmacological Receptor Mechanisms and Effects
- Antibiotics Pharmacokinetics and Efficacy
- Pharmaceutical studies and practices
- Neuroscience of respiration and sleep
- Diet and metabolism studies
- Infant Development and Preterm Care
- Vagus Nerve Stimulation Research
- Cerebral Palsy and Movement Disorders
- Lipid Membrane Structure and Behavior
- Reproductive biology and impacts on aquatic species
- Genomics and Rare Diseases
- Neurological disorders and treatments
- CRISPR and Genetic Engineering
- Attention Deficit Hyperactivity Disorder
- Fish Ecology and Management Studies
KU Leuven
2016-2024
Ghent University Hospital
2021-2024
Columbia University
2021
Synod Hospital
2021
Presbyterian Hospital
2021
Massachusetts General Hospital
2019
Dravet syndrome (DS) is a genetic encephalopathy that characterized by severe seizures and prominent co-morbidities (e.g. physical, intellectual disabilities). More than 85% of the DS patients carry an SCN1A mutation (sodium channel, voltage gated, type I alpha subunit). Although numerous anti-epileptic drugs (AEDs) have entered market since 1990, these often fail to adequately control in patients. Nonetheless, current clinical data shows significant seizure reduction treated with...
Dravet syndrome (DS) is a severe epilepsy that starts within the first year of life. In clinical study, add-on treatment with fenfluramine, potent 5-hydroxytryptamine (5-HT) releaser activating multiple 5-HT receptor subtypes, made 70% DS children seizure free. Others and we recently confirmed efficacy fenfluramine as an antiepileptiform compound in zebrafish models DS. By using large set subtype selective agonists, this study examined which subtypes can be targeted to trigger antiseizure...
Iodothyronine deiodinases are selenocysteine-containing enzymes that activate or inactivate thyroid hormones (THs). Deiodinase type 2 (Dio2) catalyzes the conversion of prohormone T4 into transcriptionally active T3 and is predominant activating deiodinase in zebrafish. Using zinc finger nucleases, we generated two different dio2(-/-) mutant zebrafish lines to investigate physiological function this TH activator. The first line contains a deletion 9 bp, resulting an in-frame elimination...
Abstract Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations ARSs have emerged as cause recessive, often complex neurological disease traits. Here we report an allelic series consisting seven novel and two previously reported biallelic variants valyl-tRNA synthetase ( VARS ) ten patients developmental encephalopathy microcephaly, associated early-onset epilepsy. In silico, vitro, yeast...
Summary Dravet syndrome ( DS ) is a severe genetic epileptic encephalopathy with onset during the first year of life. Zebrafish models recapitulating human diseases are often used as drug discovery platforms, but also for repurposing testing. It was recently shown that pharmacological modulation three serotonergic (5‐ HT receptors 1D , 5‐ 2C 2A exerts antiseizure effects in zebrafish scn1Lab −/− mutant model . Using model, our aim to examine possibility efavirenz EFA ), lisuride LIS and...
Abstract Aims . To characterize the clinical phenotype of Sunflower syndrome. syndrome is a rare photosensitive epilepsy characterized by highly stereotyped seizures, photosensitivity, and heliotropism. Methods We retrospectively reviewed medical records patients seen in Massachusetts General Hospital for Children (MGHfC) pediatric program with history Results Twenty‐four were identified; 18 female. At time initial MGHfC evaluation, patients’ ages ranged from 6.4 to 25 years, median age 11.5...
To determine the efficacy of fenfluramine on seizure frequency in patients with Sunflower syndrome. Secondary endpoints were changes electroencephalogram (EEG) characteristics, cognitive functioning, executive and quality life.In this open-label study, underwent a 4-week baseline period, followed by 3 months treatment. An oral solution was administered twice daily for months. The dose titrated up to maximum 0.7mg/kg/day or 26mg/day. Cardiac safety monitored transthoracic echocardiogram...
Antiseizure medications (ASMs) remain the mainstay of epilepsy treatment. These ASMs have mainly been tested in trials adults with epilepsy, which subsequently led to market authorization (MA). For treatment - especially young children several do not a MA and guidelines are lacking, leading "off-label" use ASMs. Even though ASM prescriptions for could lead more adverse events, it can be clinically appropriate rational if benefits outweigh risks. This case "on-label" ASM, mono- or...
Dravet syndrome (DS) is a rare genetic encephalopathy that characterized by severe seizures and highly resistant to commonly used antiepileptic drugs (AEDs). In 2020, FDA has approved fenfluramine (FFA) for treatment of associated with DS. However, the clinically FFA racemic mixture (i.e. (±)-FFA), substantially metabolized norfenfluramine (norFFA), it presently not known whether efficacy due single enantiomer FFA, or both, norFFA enantiomers also contribute significantly. this study,...
OPINION article Front. Neurol., 30 July 2021 | https://doi.org/10.3389/fneur.2021.720073
Abstract Objective Sunflower syndrome is a rare photosensitive childhood‐onset epilepsy, featuring repetitive handwaving events (HWE) triggered by light. documentation of these HWE can be difficult due to the numerous occurring daily and/or caregivers who document seizures but are not always present. Hence, seizure diaries underreporting. Methods We performed feasibility study in three Belgian individuals assess possibility quantify wrist‐worn wearable device (Axivity AX6). conducted...
To evaluate the efficacy and tolerability of adjunctive fenfluramine in treating patients with sunflower syndrome.
Sunflower syndrome is a unique photosensitive epilepsy, characterized by heliotropism and stereotyped seizures associated with handwaving. These handwaving events (HWE) are thought to be an ictal phenomenon, although current data contrasting. Photosensitive epilepsy occurs in 2%-5% of the forms several pathogenic gene variants have been epilepsy. However, genetic etiology remains unknown. Antiseizure medications (ASM) efficacious treating valproic acid (VPA) levetiracetam (LEV) some forms,...