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Neurology|July 11, 2022
Ketamine for Management of Neonatal and Pediatric Refractory Status EpilepticusMarin Jacobwitz, Caitlyn Mulvihill, Michael C Kaufman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 5, 2020
Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretationShiva Ganesan, Peter D Galer, Katherine L Helbig, et al.
Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
JCI Insight|May 21, 2024
Molecular and cellular context influences SCN8A variant functionCarlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2023
Molecular and Cellular Context Influences SCN8A Variant FunctionCarlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser, et al.
Human Molecular Genetics|January 2, 2015
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assemblyKatia Hardies, Patrick May, Tania Djémié, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretationShiva Ganesan, Peter D Galer, Katherine L Helbig, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defectsCarla Marini, Katia Hardies, Tiziana Pisano, et al.
The Lancet. Digital Health|March 24, 2023
Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort studyJillian L McKee, Michael C Kaufman, Alexander K Gonzalez, et al.
American Journal of Medical Genetics. Part A|July 15, 2024
Expanding the clinical phenotype and variant spectrum associated with RFX7Talia Sisroe, Attila Dos Santos, Alyssa L Rippert, et al.
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