Area of research
Physiology · Psychiatry and Mental health
Research interest
Research interests include Medicine, Tuberous sclerosis, Epilepsy, Biology, Psychology, and TSC1.
Brain malformations and seizures by impaired chaperonin function of TRiC
Prenatal assessment of brain malformations on neuroimaging: an expert panel review
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology
The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the <scp>EPISTOP</scp> Trial
International consensus recommendations on the diagnostic work-up for malformations of cortical development
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
The spectrum of brain malformations and disruptions in twins
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities