Joseph Toulouse
A5017932291- Epilepsy research and treatment
- Vestibular and auditory disorders
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Palliative Care and End-of-Life Issues
- Childhood Cancer Survivors' Quality of Life
- Obstructive Sleep Apnea Research
- Olfactory and Sensory Function Studies
- Sleep and Wakefulness Research
- Genetics and Neurodevelopmental Disorders
- Ultrasound in Clinical Applications
- Platelet Disorders and Treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Public Health and Social Inequalities
- Infant Development and Preterm Care
- Genomic variations and chromosomal abnormalities
- Neonatal and fetal brain pathology
- Diet and metabolism studies
- Cardiac and Coronary Surgery Techniques
- Cellular transport and secretion
- Neonatal Respiratory Health Research
- Digestive system and related health
- Gastroesophageal reflux and treatments
- Climate Change and Health Impacts
Stichting Epilepsie Instellingen Nederland
2024
University of Amsterdam
2024
Amsterdam Neuroscience
2024
University Medical Center Utrecht
2024
ERN EpiCARE
2021
Hospices Civils de Lyon
2019-2021
Centre de Recherche en Neurosciences de Lyon
2020
Inserm
2018-2019
University of Southern Denmark
2019
Filadelfia
2019
Abstract Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to infancy migrating focal seizures (EIMFS) include developmental epileptic encephalopathies. This study aims provide comprehensive overview the phenotypic genotypic KCNT1 mutation-related disorders 248 individuals, including 66...
Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared lesional patients. In this study, we aimed to characterize large group patients who underwent despite normal and had no lesion histopathology. Determinants their postoperative seizure outcomes were further studied.
To provide new insights into the FOXG1-related clinical and imaging phenotypes refine phenotype-genotype correlation in FOXG1 syndrome.We analyzed of a cohort 45 patients with pathogenic or likely variant performed correlations.A total 37 different heterozygous mutations were identified, which 18 are novel. We described broad spectrum neurodevelopmental phenotypes, characterized by severe postnatal microcephaly developmental delay accompanied hyperkinetic movement disorder, stereotypes sleep...
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...
Objective GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes wide range of neurological symptoms in children and adults. However, its diagnosis relies on an invasive test, i.e., lumbar puncture (LP) to measure glycorrhachia, and, sometimes complex, molecular analyses the <i>SLC2A1</i> gene. This procedure limits number patients able receive standard care. We wished validate diagnostic performance METAglut1™, simple blood test quantifies at erythrocyte...
The study is aimed at widening the clinical and genetic spectrum assessing genotype-phenotype associations in QARS encephalopathy.Through diagnostic gene panel screening an epilepsy cohort, recruiting through GeneMatcher our international network, we collected 10 patients with biallelic variants. In addition, data on 12 described literature to further delineate associated phenotype a total cohort of 22 patients. Computer modeling was used assess changes protein folding.Biallelic pathogenic...
Purpose: Hyperinsulinism is a rare genetic disorder with heterogeneous presentation. Its severity ranges from severe, life-threatening hypoglycemia in newborns to mildly symptomatic beginning childhood, adolescence, or adulthood. Hypoglycemic loss of consciousness and seizures are the most common presentations. Electroencephalography (EEG) patterns not well known, patients may be erroneously diagnosed epilepsy. We tried better characterize EEG datas cohort hyperinsulinism.