Area of research
Physiology · Psychiatry and Mental health
Research interest
Research interests include Tuberous Sclerosis Complex Research, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, and Neuroscience and Neuropharmacology Research.
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study
Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
The mTOR signalling cascade: paving new roads to cure neurological disease
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>
Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex