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Literature DB >> 27073346

Deep Blue "Seq": Fishing for Epilepsy Genes.

Zane Lybrand, Jenny Hsieh.

Abstract

Entities: Disease

Year: 2016 PMID： 27073346 PMCID： PMC4822731 DOI： 10.5698/1535-7511-16.2.110

Source DB: PubMed Journal: Epilepsy Curr ISSN： 1535-7511 Impact factor: 7.500

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References

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11 in total

1. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Authors: Richard J Leventer; Thomas Scerri; Ashley P L Marsh; Kate Pope; Greta Gillies; Wirginia Maixner; Duncan MacGregor; A Simon Harvey; Martin B Delatycki; David J Amor; Peter Crino; Melanie Bahlo; Paul J Lockhart
Journal: Neurology Date: 2015-04-15 Impact factor: 9.910

Review 2. mTOR: from growth signal integration to cancer, diabetes and ageing.

Authors: Roberto Zoncu; Alejo Efeyan; David M Sabatini
Journal: Nat Rev Mol Cell Biol Date: 2010-12-15 Impact factor: 94.444

3. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Authors: Jae Seok Lim; Woo-il Kim; Hoon-Chul Kang; Se Hoon Kim; Ah Hyung Park; Eun Kyung Park; Young-Wook Cho; Sangwoo Kim; Ho Min Kim; Jeong A Kim; Junho Kim; Hwanseok Rhee; Seok-Gu Kang; Heung Dong Kim; Daesoo Kim; Dong-Seok Kim; Jeong Ho Lee
Journal: Nat Med Date: 2015-03-23 Impact factor: 53.440

4. Inherited Channelopathies Associated with Epilepsy.

Authors: Alfred L George
Journal: Epilepsy Curr Date: 2004-03 Impact factor: 7.500

5. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Authors: Mitsuko Nakashima; Hirotomo Saitsu; Nobuyuki Takei; Jun Tohyama; Mitsuhiro Kato; Hiroki Kitaura; Masaaki Shiina; Hiroshi Shirozu; Hiroshi Masuda; Keisuke Watanabe; Chihiro Ohba; Yoshinori Tsurusaki; Noriko Miyake; Yingjun Zheng; Tatsuhiro Sato; Hirohide Takebayashi; Kazuhiro Ogata; Shigeki Kameyama; Akiyoshi Kakita; Naomichi Matsumoto
Journal: Ann Neurol Date: 2015-07-03 Impact factor: 10.422

Deep Blue "Seq": Fishing for Epilepsy Genes.

1. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Review 2. mTOR: from growth signal integration to cancer, diabetes and ageing.

3. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

4. Inherited Channelopathies Associated with Epilepsy.

5. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Review 6. Navigating the channels and beyond: unravelling the genetics of the epilepsies.

7. Epileptic seizures and syndromes in twins: the importance of genetic factors.

Review 8. Recent advances in the molecular genetics of epilepsy.

9. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.

Review 10. Advancing epilepsy genetics in the genomic era.