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Medrxiv : the Preprint Server for Health Sciences|July 1, 2024
A Longitudinal Exploration of <i>CACNA1A</i> -related Hemiplegic Migraine in ChildrenDonna Schaare, Laina Lusk, Alexis Karlin, et al.
Biorxiv : the Preprint Server for Biology|February 9, 2026
Active transport of tRNAs facilitates distributed protein synthesisJennifer Morgan Petrosino, Vasiliki Courelli, Keita Uchida, et al.
Epilepsia|May 20, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plusMichael F Hammer, Yanling Pan, Medhane Cumbay, et al.
Epilepsia|February 13, 2013
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndromeJan Moehring, Sarah von Spiczak, Friederike Moeller, et al.
BMC Medical Informatics and Decision Making|July 28, 2022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of careJames M Havrilla, Anbumalar Singaravelu, Dennis M Driscoll, et al.
American Journal of Physiology. Cell Physiology|August 6, 2010
S100A1 promotes action potential-initiated calcium release flux and force production in skeletal muscleBenjamin L Prosser, Erick O Hernández-Ochoa, Richard M Lovering, et al.
Biorxiv : the Preprint Server for Biology|September 4, 2024
Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disordersAlex J Felix, Taryn Wilson, Rani Randell, et al.
Frontiers in Cell and Developmental Biology|April 18, 2022
Transcriptional, Post-Transcriptional, and Post-Translational Mechanisms Rewrite the Tubulin Code During Cardiac Hypertrophy and FailureSai Aung Phyo, Keita Uchida, Christina Yingxian Chen, et al.
Epilepsia|May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable fociChristina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Neurocritical Care|October 2, 2023
A Comparison of Ketamine and Midazolam as First-Line Anesthetic Infusions for Pediatric Status EpilepticusMarin Jacobwitz, Caitlyn Mulvihill, Michael C Kaufman, et al.
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