Literature DB >> 24062348

Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.

Nicholas D Child1, Gregory D Cascino.   

Abstract

A 55-year-old man presented with seizures characterized by "tightening" of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple skin lesions (figure 2) and colonoscopy revealed gastrointestinal mucosal ganglioneuromas. Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS).

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Year:  2013        PMID： 24062348      PMCID： PMC3795595          DOI： 10.1212/WNL.0b013e3182a55ef0

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  2 in total

Review 1.  Cowden syndrome.

Authors:  A Farooq; L J Walker; J Bowling; R A Audisio
Journal:  Cancer Treat Rev       Date:  2010-05-23       Impact factor: 12.111

2.  Brain magnetic resonance imaging in patients with Cowden syndrome.

Authors:  Catherine Lok; Valérie Viseux; Marie Françoise Avril; Marie Aleth Richard; Catherine Gondry-Jouet; Hervé Deramond; Caroline Desfossez-Tribout; Sandrine Courtade; Michèle Delaunay; Fréderic Piette; Daniel Legars; Brigitte Dreno; Philippe Saïag; Michel Longy; Gérard Lorette; Liliane Laroche; Fréderic Caux
Journal:  Medicine (Baltimore)       Date:  2005-03       Impact factor: 1.889
  2 in total
  10 in total

1.  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:  Laura A Jansen; Ghayda M Mirzaa; Gisele E Ishak; Brian J O'Roak; Joseph B Hiatt; William H Roden; Sonya A Gunter; Susan L Christian; Sarah Collins; Carissa Adams; Jean-Baptiste Rivière; Judith St-Onge; Jeffrey G Ojemann; Jay Shendure; Robert F Hevner; William B Dobyns
Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

Review 2.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Authors:  Bo Hoon Lee; Tristram Smith; Alex R Paciorkowski
Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

Review 3.  The Role of PTEN in Neurodevelopment.

Authors:  Patrick D Skelton; Radu V Stan; Bryan W Luikart
Journal:  Mol Neuropsychiatry       Date:  2020-01-21

4.  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

Review 5.  Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Authors:  Amanda K Tilot; Thomas W Frazier; Charis Eng
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

6.  Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons.

Authors:  Stephanie A Getz; Tyrone DeSpenza; Meijie Li; Bryan W Luikart
Journal:  Neurobiol Dis       Date:  2016-03-15       Impact factor: 5.996

Review 7.  Reciprocal control of translation and transcription in autism spectrum disorder.

Authors:  Francesco Longo; Eric Klann
Journal:  EMBO Rep       Date:  2021-05-11       Impact factor: 9.071

8.  Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.

Authors:  Tadashi Adachi; Hiroshi Takigawa; Takashi Nomura; Yasuhiro Watanabe; Hisanori Kowa
Journal:  Intern Med       Date:  2017-10-16       Impact factor: 1.271

9.  Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Authors:  Ritsuko Kimata Pooh; Megumi Machida; Issei Imoto; Eri Noel Arai; Hiroyasu Ohashi; Masayoshi Takeda; Osamu Shimokawa; Kaori Fukuta; Arihiro Shiozaki; Shigeru Saito; Hideaki Chiyo
Journal:  Genes (Basel)       Date:  2021-03-02       Impact factor: 4.096

Review 10.  PTEN Inhibition in Human Disease Therapy.

Authors:  Rafael Pulido
Journal:  Molecules       Date:  2018-01-30       Impact factor: 4.411
  10 in total

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