Precise detection of low-level somatic mutation in resected epilepsy brain tissue-Reference-Cited by-同舟云学术

Precise detection of low-level somatic mutation in resected epilepsy brain tissue

Published:2019-08-03 Issue:6 Volume:138 Page:901-912
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Sim Nam Suk,Ko Ara,Kim Woo Kyeong,Kim Se Hoon,Kim Ju Seong,Shim Kyu-Won,Aronica Eleonora,Mijnsbergen Caroline,Spliet Wim G. M.,Koh Hyun Yong,Kim Heung Dong,Lee Joon Soo,Kim Dong Seok,Kang Hoon-Chul,Lee Jeong Ho

Funder

Suh Kyungbae Foundation

Korean Health Technology R&D Project

Netherlands Organisation for Health Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-019-02052-6.pdf

Reference38 articles.

1. Kwan P, Brodie MJ (2000) Early identification of refractory epilepsy. N Engl J Med 342:314–319. https://doi.org/10.1056/NEJM200002033420503

2. Epi4K consortium; Epilepsy Phenome/Genome Project (2017) Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol 16:135–143. https://doi.org/10.1016/S1474-4422(16)30359-3

3. Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A et al (2012) De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 44:941–945. https://doi.org/10.1038/ng.2329

4. Lim JS, Gopalappa R, Kim SH, Ramakrishna S, Lee M, Kim WI et al (2017) Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia. Am J Hum Genet 100:454–472. https://doi.org/10.1016/j.ajhg.2017.01.030

5. Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK et al (2015) Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat Med 21:395–400. https://doi.org/10.1038/nm.3824

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