selected publications
- ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human molecular genetics. 2023 Academic Article GET IT
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Long-term neuropsychological outcomes in children with febrile infection-related epilepsy syndrome (FIRES) treated with anakinra.
Frontiers in neurology.
2023
Academic Article
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Times cited: 44 -
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Molecular genetics & genomic medicine.
2022
Review
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Times cited: 7 -
Surgical evaluation in children <3 years of age with drug-resistant epilepsy: Patient characteristics, diagnostic utilization, and potential for treatment delays.
Epilepsia.
2021
Academic Article
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Times cited: 6 -
Measurable outcomes for pediatric epileptic encephalopathy: a single-center experience with corticosteroid therapy.
Epileptic disorders : international epilepsy journal with videotape.
2021
Academic Article
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Times cited: 5 -
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.
Annals of clinical and translational neurology.
2020
Academic Article
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Times cited: 55 -
How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey.
Epilepsy research.
2018
Academic Article
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Times cited: 14 -
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
2017
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Times cited: 44 -
Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations.
The Journal of pediatrics.
2017
Academic Article
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Times cited: 6 -
Seizure Outcomes in Children Following Electrocorticography-Guided Single-Stage Surgical Resection.
Pediatric neurology.
2017
Academic Article
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Times cited: 8 -
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Neurology. Genetics.
2016
Academic Article
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Times cited: 141 -
Visual Processing in Infants with Tuberous Sclerosis Complex.
Pediatric neurology briefs.
2016
Academic Article
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Times cited: 14 -
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
The Lancet. Neurology.
2015
Academic Article
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Times cited: 634 -
Photosensitivity and CHD2 Variants.
Pediatric neurology briefs.
2015
Academic Article
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Times cited: 27 -
Epilepsy Following Neonatal Seizures Secondary to Hemorrhagic Stroke in Term Neonates.
Journal of child neurology.
2015
Academic Article
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Times cited: 5 - A 13-month-old male with possible seizures. 2014 GET IT
- Interictal attenuation in pediatric electrocorticography can be reliably detected by EEG readers. Epilepsy research. 2014 Academic Article GET IT
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Is the ketogenic diet effective in specific epilepsy syndromes?.
Epilepsy research.
2012
Review
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Times cited: 67 -
Successful management of refractory neonatal seizures with midazolam.
Journal of child neurology.
2008
Academic Article
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Times cited: 21