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Author Details

Tristan T Sands
Columbia University Irving Medical Center
2003
31
16
PMIDPaper TitleJournal TitlePublished Year
37948790Epilepsy and Encephalopathy.Pediatr Neurol2024
36385166Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.Mol Psychiatry2023
37498137Creating rare epilepsy cohorts using keyword search in electronic health records.Epilepsia2023
37295955Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.Neurology2023
36740579Clinical utility of exome sequencing in a pediatric epilepsy cohort.Epilepsia2023
36307226Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.Neurology2023
34812578Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity.J Clin Neurophysiol2022
35441233Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain2022
35780567KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.EBioMedicine2022
35078725Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.Genet Med2022
34022752Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.Pediatr Neurol2021
34418087Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticus.Epilepsia2021
34251039Factors associated with long-term outcomes in pediatric refractory status epilepticus.Epilepsia2021
34041744CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Epilepsia2021
34153113Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.Epilepsia2021
34120133Super-Refractory Status Epilepticus in Children: A Retrospective Cohort Study.Pediatr Crit Care Med2021
32185790Rasmussen Encephalitis: An Update.Semin Neurol2020
33013448A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by β-Hydroxybutyrate.Front Physiol2020
32611646Association of guideline publication and delays to treatment in pediatric status epilepticus.Neurology2020
30460546Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US.CNS Drugs2019
31177578Autism and developmental disability caused by KCNQ3 gain-of-function variants.Ann Neurol2019
29426806Neonatal epilepsies: Clinical management.Semin Fetal Neonatal Med2018
30182418Lack of response to quinidine in KCNT1-related neonatal epilepsy.Epilepsia2018
30194818Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.Am J Med Genet A2018
30269351NBEA: Developmental disease gene with early generalized epilepsy phenotypes.Ann Neurol2018
30311377The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.Hum Mutat2018
28405954Genetic Testing in Pediatric Epilepsy.Curr Neurol Neurosci Rep2017
27595805Recent Advances in Neonatal Seizures.Curr Neurol Neurosci Rep2016
27888506Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.Epilepsia2016
25847336Focal seizures in children with anti-NMDA receptor antibody encephalitis.Epilepsy Res2015
14504293Terpene trilactones from Ginkgo biloba are antagonists of cortical glycine and GABA(A) receptors.J Biol Chem2003
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