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Brain : a Journal of Neurology|March 17, 2022
Atypical development of Broca's area in a large family with inherited stutteringDaisy G Y Thompson-Lake, Thomas S Scerri, Susan Block, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsyHannah C Happ, Patricia N Schneider, Jung Hwa Hong, et al.
Annals of Neurology|December 10, 2013
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathyGökce Orhan, Merle Bock, Dorien Schepers, et al.
Annals of Neurology|October 21, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSLaure Mazzola, Karen L Oliver, Audrey Labalme, et al.
Neurology|October 5, 2021
Hypothalamic Hamartomas: Evolving Understanding and ManagementNathan T Cohen, J Helen Cross, Alexis Arzimanoglou, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Epilepsia|March 12, 2025
Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndromeIngrid E Scheffer, Rima Nabbout, Lieven Lagae, et al.
Epilepsy Research|November 5, 2016
Mortality in Dravet syndromeMonica S Cooper, Anne Mcintosh, Douglas E Crompton, et al.
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