Literature DB >> 22015915

Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations.

Michael Wong1.   

Abstract

Focal cortical dysplasia (FCD) and other localized malformations of cortical development represent common causes of intractable pediatric epilepsy. Insights into the cellular and molecular pathogenesis of focal cortical malformations may reveal information about associated mechanisms of epileptogenesis and suggest new therapies for seizures caused by these developmental lesions. In animal models and human studies of FCD and the related disease of Tuberous Sclerosis Complex (TSC), the mammalian target of rapamycin (mTOR) pathway has been implicated in mediating cellular and molecular changes leading to the formation of the cortical malformations and the expression of epilepsy. The use of mTOR inhibitors may represent a rational therapeutic strategy for treating or even preventing epilepsy due to FCD and TSC.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 22015915      PMCID： PMC3265661          DOI： 10.1016/j.expneurol.2011.10.002

Source DB:  PubMed          Journal:  Exp Neurol        ISSN： 0014-4886            Impact factor:   5.330


  53 in total

1.  Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

Authors:  Albert J Becker; Horst Urbach; Björn Scheffler; Thomas Baden; Sabine Normann; Rainer Lahl; Heinz W Pannek; Ingrid Tuxhorn; Christian E Elger; Johannes Schramm; Otmar D Wiestler; Ingmar Blümcke
Journal:  Ann Neurol       Date:  2002-07       Impact factor: 10.422

2.  Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell.

Authors:  Shireena A Yasin; Kate Latak; Francesca Becherini; Anita Ganapathi; Khadijah Miller; Oliver Campos; Simon R Picker; Nelly Bier; Martin Smith; Maria Thom; Glenn Anderson; J Helen Cross; William Harkness; Brian Harding; Thomas S Jacques
Journal:  Acta Neuropathol       Date:  2010-03-30       Impact factor: 17.088

Review 3.  Surgical outcome for focal cortical dysplasia: an analysis of recent surgical series.

Authors:  Joshua J Chern; Akash J Patel; Andrew Jea; Daniel J Curry; Youssef G Comair
Journal:  J Neurosurg Pediatr       Date:  2010-11       Impact factor: 2.375

4.  Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.

Authors:  Darcy A Krueger; Marguerite M Care; Katherine Holland; Karen Agricola; Cynthia Tudor; Prajakta Mangeshkar; Kimberly A Wilson; Anna Byars; Tarek Sahmoud; David Neal Franz
Journal:  N Engl J Med       Date:  2010-11-04       Impact factor: 91.245

5.  Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II.

Authors:  Carlos Cepeda; Véronique M André; Irene Yamazaki; Jason S Hauptman; Jane Y Chen; Harry V Vinters; Gary W Mathern; Michael S Levine
Journal:  Epilepsia       Date:  2010-07       Impact factor: 5.864

6.  The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission.

Authors:  Ingmar Blümcke; Maria Thom; Eleonora Aronica; Dawna D Armstrong; Harry V Vinters; Andre Palmini; Thomas S Jacques; Giuliano Avanzini; A James Barkovich; Giorgio Battaglia; Albert Becker; Carlos Cepeda; Fernando Cendes; Nadia Colombo; Peter Crino; J Helen Cross; Olivier Delalande; François Dubeau; John Duncan; Renzo Guerrini; Philippe Kahane; Gary Mathern; Imad Najm; Ciğdem Ozkara; Charles Raybaud; Alfonso Represa; Steven N Roper; Noriko Salamon; Andreas Schulze-Bonhage; Laura Tassi; Annamaria Vezzani; Roberto Spreafico
Journal:  Epilepsia       Date:  2010-11-10       Impact factor: 5.864

7.  Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

Authors:  Ling-Hui Zeng; Nicholas R Rensing; Bo Zhang; David H Gutmann; Michael J Gambello; Michael Wong
Journal:  Hum Mol Genet       Date:  2010-11-09       Impact factor: 6.150

8.  Doublecortin immunoreactivity in giant cells of tuberous sclerosis and focal cortical dysplasia.

Authors:  Masashi Mizuguchi; Hideo Yamanouchi; Laurence E Becker; Masayuki Itoh; Sachio Takashima
Journal:  Acta Neuropathol       Date:  2002-06-25       Impact factor: 17.088

9.  Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

Authors:  Erik J Uhlmann; Michael Wong; Rebecca L Baldwin; M Livia Bajenaru; Hiroaki Onda; David J Kwiatkowski; Kelvin Yamada; David H Gutmann
Journal:  Ann Neurol       Date:  2002-09       Impact factor: 10.422

10.  Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.

Authors:  L Tassi; N Colombo; R Garbelli; S Francione; G Lo Russo; R Mai; F Cardinale; M Cossu; A Ferrario; C Galli; M Bramerio; A Citterio; R Spreafico
Journal:  Brain       Date:  2002-08       Impact factor: 13.501
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  19 in total

1.  AMPA receptor antagonist NBQX attenuates later-life epileptic seizures and autistic-like social deficits following neonatal seizures.

Authors:  Jocelyn J Lippman-Bell; Sanjay N Rakhade; Peter M Klein; Makram Obeid; Michele C Jackson; Annelise Joseph; Frances E Jensen
Journal:  Epilepsia       Date:  2013-10-01       Impact factor: 5.864

2.  Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Authors:  Ghayda M Mirzaa; Catarina D Campbell; Nadia Solovieff; Carleton Goold; Laura A Jansen; Suchithra Menon; Andrew E Timms; Valerio Conti; Jonathan D Biag; Carissa Adams; Evan August Boyle; Sarah Collins; Gisele Ishak; Sandra Poliachik; Katta M Girisha; Kit San Yeung; Brian Hon Yin Chung; Elisa Rahikkala; Sonya A Gunter; Sharon S McDaniel; Colleen Forsyth Macmurdo; Jonathan A Bernstein; Beth Martin; Rebecca Leary; Scott Mahan; Shanming Liu; Molly Weaver; Michael Doerschner; Shalini Jhangiani; Donna M Muzny; Eric Boerwinkle; Richard A Gibbs; James R Lupski; Jay Shendure; Russell P Saneto; Edward J Novotny; Christopher J Wilson; William R Sellers; Michael Morrissey; Robert F Hevner; Jeffrey G Ojemann; Renzo Guerrini; Leon O Murphy; Wendy Winckler; William B Dobyns
Journal:  JAMA Neurol       Date:  2016-07-01       Impact factor: 18.302

3.  Focal cortical dysplasia is more common in boys than in girls.

Authors:  Xilma R Ortiz-González; Annapurna Poduri; Colin M Roberts; Joseph E Sullivan; Eric D Marsh; Brenda E Porter
Journal:  Epilepsy Behav       Date:  2013-02-13       Impact factor: 2.937

Review 4.  The potential of antiseizure drugs and agents that act on novel molecular targets as antiepileptogenic treatments.

Authors:  Rafal M Kaminski; Michael A Rogawski; Henrik Klitgaard
Journal:  Neurotherapeutics       Date:  2014-04       Impact factor: 7.620

5.  Dendrite growth and the effect of ectopic Rheb expression on cortical neurons.

Authors:  Aidan M Sokolov; Caitlin M Seluzicki; Mary C Morton; David M Feliciano
Journal:  Neurosci Lett       Date:  2018-02-12       Impact factor: 3.046

6.  Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.

Authors:  Mehmet Canpolat; Huseyin Per; Hakan Gumus; Ali Yikilmaz; Ekrem Unal; Turkan Patiroglu; Levent Cinar; Ali Kurtsoy; Sefer Kumandas
Journal:  Childs Nerv Syst       Date:  2013-06-07       Impact factor: 1.475

Review 7.  Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Authors:  Kim M Keppler-Noreuil; Victoria E R Parker; Thomas N Darling; Julian A Martinez-Agosto
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-11-18       Impact factor: 3.908

8.  Pathogenesis and Therapeutic Targets of Focal Cortical Dysplasia Based on Bioinformatics Analysis.

Authors:  Ying Kan; Lijuan Feng; Yukun Si; Ziang Zhou; Wei Wang; Jigang Yang
Journal:  Neurochem Res       Date:  2022-08-09       Impact factor: 4.414

9.  Loss of CLOCK Results in Dysfunction of Brain Circuits Underlying Focal Epilepsy.

Authors:  Peijun Li; Xiaoqin Fu; Nathan A Smith; Julie Ziobro; Julian Curiel; Milagros J Tenga; Brandon Martin; Samuel Freedman; Christian A Cea-Del Rio; Livio Oboti; Tammy N Tsuchida; Chima Oluigbo; Amanda Yaun; Suresh N Magge; Brent O'Neill; Amy Kao; Tesfaye G Zelleke; Dewi T Depositario-Cabacar; Svetlana Ghimbovschi; Susan Knoblach; Chen-Ying Ho; Joshua G Corbin; Howard P Goodkin; Stefano Vicini; Molly M Huntsman; William D Gaillard; Gregorio Valdez; Judy S Liu
Journal:  Neuron       Date:  2017-10-11       Impact factor: 17.173

Review 10.  Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.

Authors:  Aristea S Galanopoulou; Jan A Gorter; Carlos Cepeda
Journal:  Epilepsia       Date:  2012-05-11       Impact factor: 5.864
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