Literature DB >> 24714173

Atypical focal cortical dysplasia in a patient with Cowden syndrome.

K M Cheung1, C W Lam2, Y K Chan3, W K Siu4, L Yong5.   

Abstract

A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.

Entities:  

Keywords:  Epilepsy; Hamartoma; PTEN phosphohydrolase

Mesh：

Substances：

Year:  2014        PMID： 24714173     DOI： 10.12809/hkmj133863

Source DB:  PubMed          Journal:  Hong Kong Med J        ISSN： 1024-2708            Impact factor:   2.227


  10 in total

Review 1.  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

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

Review 3.  mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology.

Authors:  Anna Jeong; Michael Wong
Journal:  Curr Neurol Neurosci Rep       Date:  2016-12       Impact factor: 5.081

Review 4.  Genetic animal models of malformations of cortical development and epilepsy.

Authors:  Michael Wong; Steven N Roper
Journal:  J Neurosci Methods       Date:  2015-04-21       Impact factor: 2.390

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

7.  Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.

Authors:  Anna Jeong; Michael Wong
Journal:  J Child Neurol       Date:  2017-03-16       Impact factor: 1.987

Review 8.  Current Approaches and Future Directions for the Treatment of mTORopathies.

Authors:  Vasiliki Karalis; Helen S Bateup
Journal:  Dev Neurosci       Date:  2021-04-28       Impact factor: 2.984

9.  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

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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