Overview
Current Appointments & Affiliations
Adjunct Professor in the Department of Medicine
·
2016 - Present
Medicine, Cardiology,
Medicine
Faculty Network Member of the Duke Institute for Brain Sciences
·
2011 - Present
Duke Institute for Brain Sciences,
University Institutes and Centers
Recent Publications
Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism.
Journal Article Elife · January 8, 2025 Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological disorders characterized by recurrent seizures and exacerbated by disruptions to excitatory/inhibitory balance in the brain, are commonly caused by mutations in ion cha ... Full text Link to item CiteA Natural History Study of Timothy Syndrome.
Journal Article Orphanet J Rare Dis · November 23, 2024 BACKGROUND: Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all associated with ... Full text Link to item CiteMultiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Journal Article Nat Commun · October 17, 2024 The canonical G406R mutation that increases Ca2+ influx through the CACNA1C-encoded CaV1.2 Ca2+ channel underlies the multisystem disorder Timothy syndrome (TS), characterized by life-threatening arrhythmias. Severe episodic hypoglycemia is among the poorl ... Full text Link to item CiteRecent Grants
Basic predoctoral training in neuroscience
Inst. Training Prgm or CMETraining Faculty · Awarded by National Institutes of Health · 1992 - 2018Fibroblast Growth Factor Homologous Factor Modulation and Effect on Cardiac Ion Channel Trafficking
FellowshipPrincipal Investigator · Awarded by National Institutes of Health · 2016 - 2018Identifying the mechanosensitive domains of the Piezo1 ion channel by application of localized force
FellowshipCo-Sponsor · Awarded by National Institutes of Health · 2015 - 2017View All Grants
Education, Training & Certifications
Johns Hopkins University ·
1993
M.D.