Area of research
Cellular and Molecular Neuroscience · Genetics
Research interest
Research interests include Neurobiology and Insect Physiology Research, Neuroscience and Neuropharmacology Research, Genetics and Neurodevelopmental Disorders, and Epilepsy research and treatment.
De novo<i>GRIN</i>variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
Human GRIN2B variants in neurodevelopmental disorders
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains