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Pediatric Neurology|October 24, 2017
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene PanelKameryn M Butler, Cristina da Silva, John J Alexander, et al.Clinical Dysmorphology|August 30, 2021
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literatureKameryn M Butler, Vahid Bahrambeigi, Allie Merrihew, et al.Brain : a Journal of Neurology|July 3, 2018
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsyKameryn M Butler, Olivia A Moody, Elisabeth Schuler, et al.American Journal of Medical Genetics. Part A|January 31, 2022
A SOX3 duplication and lumbosacral spina bifida in three generationsKameryn M Butler, Timothy Fee, Barbara R DuPont, et al.Case Reports in Genetics|November 10, 2018
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous <i>CACNA2D2</i> VariantsKameryn M Butler, Philip J Holt, Sarah S Milla, et al.Epilepsy Research|November 23, 2016
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysisKameryn M Butler, Cristina da Silva, Yuval Shafir, et al.Genes, Brain, and Behavior|October 13, 2019
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na<sub>v</sub> 1.6 sodium channelsGeorge Andrew S Inglis, Jennifer C Wong, Kameryn M Butler, et al.Frontiers in Pharmacology|December 6, 2021
Pathogenic in-Frame Variants in <i>SCN8A</i>: Expanding the Genetic Landscape of <i>SCN8A-</i>Associated DiseaseJennifer C Wong, Kameryn M Butler, Lindsey Shapiro, et al.Epilepsia|August 23, 2018
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transportKari A Mattison, Kameryn M Butler, George Andrew S Inglis, et al.Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.Pageof 3