Literature DB >> 30284771

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy.

Sumaira Kanwal1,2, Da Hye Yoo1, Shahzad Tahir3, Su Jung Lee1, Min Hee Lee1, Byung Ok Choi4, Ki Wha Chung5.   

Abstract

Entities:  

Year:  2018        PMID: 30284771      PMCID: PMC6172512          DOI: 10.3988/jcn.2018.14.4.591

Source DB:  PubMed          Journal:  J Clin Neurol        ISSN: 1738-6586            Impact factor:   3.077


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  5 in total

1.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

Review 2.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

3.  Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

Authors:  José M Morante-Redolat; Ana Gorostidi-Pagola; Salomé Piquer-Sirerol; Amets Sáenz; Juan J Poza; Juan Galán; Stefan Gesk; Theologia Sarafidou; Victor-F Mautner; Simona Binelli; Eike Staub; Bernd Hinzmann; Lisa French; Jean-F Prud'homme; Daniela Passarelli; Paolo Scannapieco; Carlo A Tassinari; Giuliano Avanzini; José F Martí-Massó; Lan Kluwe; Panagiotis Deloukas; Nicholas K Moschonas; Roberto Michelucci; Reiner Siebert; Carlo Nobile; Jordi Pérez-Tur; Adolfo López de Munain
Journal:  Hum Mol Genet       Date:  2002-05-01       Impact factor: 6.150

4.  Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.

Authors:  Atsushi Yamagata; Yuri Miyazaki; Norihiko Yokoi; Hideki Shigematsu; Yusuke Sato; Sakurako Goto-Ito; Asami Maeda; Teppei Goto; Makoto Sanbo; Masumi Hirabayashi; Mikako Shirouzu; Yuko Fukata; Masaki Fukata; Shuya Fukai
Journal:  Nat Commun       Date:  2018-04-18       Impact factor: 14.919

Review 5.  Genetic and epigenetic mechanisms of epilepsy: a review.

Authors:  Tian Chen; Mohan Giri; Zhenyi Xia; Yadu Nanda Subedi; Yan Li
Journal:  Neuropsychiatr Dis Treat       Date:  2017-07-13       Impact factor: 2.570

  5 in total

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