Area of research
Psychiatry and Mental health · Genetics
Research interest
Research interests include Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Ion channel regulation and function.
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
Factors associated with long‐term outcomes in pediatric refractory status epilepticus
Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants
Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US
Lack of response to quinidine in <i><scp>KCNT</scp>1</i>‐related neonatal epilepsy
Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature
<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria
Rapid and safe response to low‐dose carbamazepine in neonatal epilepsy