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Epilepsy & Behavior : E&B|April 4, 2009
Curing epilepsy: progress and future directionsMargaret P Jacobs, Gabrielle G Leblanc, Amy Brooks-Kayal, et al.Annals of Neurology|April 25, 2022
A Role for Insulin-like Growth Factor 1 in the Generation of Epileptic Spasms in a murine modelCarlos J Ballester-Rosado, John T Le, Trang T Lam, et al.Nature|November 26, 2015
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotidesYehezkel Sztainberg, Hong-mei Chen, John W Swann, et al.Neuropathology : Official Journal of the Japanese Society of Neuropathology|September 19, 2015
Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasiaVinit V Patil, Miguel Guzman, Angela N Carter, et al.Journal of Child Neurology|July 2, 2011
Treatment of infantile spasms: emerging insights from clinical and basic science perspectivesCarl E Stafstrom, Barry G W Arnason, Tallie Z Baram, et al.Elife|February 20, 2020
<i>Stxbp1/Munc18-1</i> haploinsufficiency impairs inhibition and mediates key neurological features of <i>STXBP1</i> encephalopathyWu Chen, Zhao-Lin Cai, Eugene S Chao, et al.American Journal of Medical Genetics. Part A|January 31, 2025
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the LiteratureMelina L Corriveau, Joshua C Korb, Sydney L Michener, et al.American Journal of Medical Genetics. Part A|March 11, 2023
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literatureMelina L Corriveau, Sabrina I Amaya, Mary Clare Koebel, et al.Pageof 4