참고문헌
- Alcantara, D., Timms, A.E., Gripp, K., Baker, L., Park, K., Collins, S., Cheng, C., Stewart, F., Mehta, S.G., Saggar, A., et al. (2017). Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain 140, 2610-2622. https://doi.org/10.1093/brain/awx203
- Allen, A.S., Berkovic, S.F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E.E., Epstein M.P., Glauser, T., Goldstein, D.B., Han, Y., et al. (2013). De novo mutations in epileptic encephalopathies. Nature 501, 217-221. https://doi.org/10.1038/nature12439
- Bae, T., Tomasini, L., Mariani, J., Zhou, B., Roychowdhury, T., Franjic, D., Pletikos, M., Pattni, R., Chen, B.J., Venturini, E., et al. (2018). Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. Science 359, 550-555. https://doi.org/10.1126/science.aan8690
- Bargmann, C.I., and Marder, E. (2013). From the connectome to brain function. Nat. Methods 10, 483-490. https://doi.org/10.1038/nmeth.2451
- Barkovich, A.J., Kuzniecky, R.I., Dobyns, W.B., Jackson, G.D., Becker, L.E., and Evrard, P. (1996). A classification scheme for malformations of cortical development. Neuropediatrics 27, 59-63. https://doi.org/10.1055/s-2007-973750
- Bassett, D.S., and Sporns, O. (2017). Network neuroscience. Nat. Neurosci. 20, 353-364. https://doi.org/10.1038/nn.4502
- Blumcke, I., Aronica, E., Becker, A., Capper, D., Coras, R., Honavar, M., Jacques, T.S., Kobow, K., Miyata, H., Muhlebner, A., et al. (2016). Low-grade epilepsy-associated neuroepithelial tumours - the 2016 WHO classification. Nat. Rev. Neurol. 12, 732-740. https://doi.org/10.1038/nrneurol.2016.173
- Briellmann, R.S., Torn-Broers, Y., and Berkovic, S.F. (2001). Idiopathic generalized epilepsies: do sporadic and familial cases differ? Epilepsia 42, 1399-1402.
- Chen, L., Liu, P., Evans, T.C., Jr., and Ettwiller, L.M. (2017). DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification. Science 355, 752-756. doi:10.1126/science.aai8690
- Chin, L., Andersen, J.N., and Futreal, P.A. (2011). Cancer genomics: from discovery science to personalized medicine. Nat. Med. 17, 297-303. https://doi.org/10.1038/nm.2323
- Crawford, P.M., West, C.R., Chadwick, D.W., and Shaw, M.D. (1986). Arteriovenous malformations of the brain: natural history in unoperated patients. J. Neurol Neurosurg. Psychiatry 49, 1-10. https://doi.org/10.1136/jnnp.49.1.1
- Crino, P.B. (2009). Focal brain malformations: seizures, signaling, sequencing. Epilepsia 50 Suppl 9, 3-8.
- D'Gama, A.M., Geng, Y., Couto, J.A., Martin, B., Boyle, E.A., LaCoursiere, C.M., Hossain, A., Hatem, N.E., Barry, B.J., Kwiatkowski, D.J., et al. (2015). Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann. Neurol. 77, 720-725. https://doi.org/10.1002/ana.24357
- D'Gama, A.M., Woodworth, M.B., Hossain, A.A., Bizzotto, S., Hatem, N.E., LaCoursiere, C.M., Najm, I., Ying, Z., Yang, E., Barkovich, A.J., et al. (2017). Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias. Cell Rep. 21, 3754-3766. https://doi.org/10.1016/j.celrep.2017.11.106
- DeFelipe, J. (2010). From the connectome to the synaptome: an epic love story. Science 330, 1198-1201. https://doi.org/10.1126/science.1193378
- Deisseroth, K. (2011). Optogenetics. Nat. Methods 8, 26-29. https://doi.org/10.1038/nmeth.f.324
- Evrony, G.D., Cai, X., Lee, E., Hills, L.B., Elhosary, P.C., Lehmann, H.S., Parker, J.J., Atabay, K.D., Gilmore, E.C., Poduri, A., et al. (2012). Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell 151, 483-496. https://doi.org/10.1016/j.cell.2012.09.035
- Ferrea, E., Maccione, A., Medrihan, L., Nieus, T., Ghezzi, D., Baldelli, P., Benfenati F., and Berdondini, L. (2012). Large-scale, high-resolution electrophysiological imaging of field potentials in brain slices with microelectronic multielectrode arrays. Front Neural Circuits 6, 80.
- Gaudelli, N.M., Komor, A.C., Rees, H.A., Packer, M.S., Badran, A.H., Bryson, D.I., and Liu, D.R. (2017). Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage. Nature 551, 464-471. https://doi.org/10.1038/nature24644
- Grabiner, B.C., Nardi, V., Birsoy, K., Possemato, R., Shen, K., Sinha, S., Jordan, A., Beck, A.H., and Sabatini, D.M. (2014). A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. Cancer Discov. 4, 554-563. https://doi.org/10.1158/2159-8290.CD-13-0929
- Hildebrand, M.S., Dahl, H.H., Damiano, J.A., Smith, R.J., Scheffer, I.E., and Berkovic, S.F. (2013). Recent advances in the molecular genetics of epilepsy. J. Med. Genet. 50, 271-279. https://doi.org/10.1136/jmedgenet-2012-101448
- Insel, T.R. (2014). Brain somatic mutations: the dark matter of psychiatric genetics? Mol. Psychiatry 19, 156-158. https://doi.org/10.1038/mp.2013.168
- Jamuar, S.S., Lam, A.T., Kircher, M., D'Gama, A.M., Wang, J., Barry, B.J., Zhang, X, Hill, R.S., Partlow, J.N., Rozzo, A., et al. (2014). Somatic mutations in cerebral cortical malformations. N. Engl. J. Med. 371, 733-743. https://doi.org/10.1056/NEJMoa1314432
- Jansen, L.A., Mirzaa, G.M., Ishak, G.E., O'Roak, B.J., Hiatt, J.B., Roden, W.H., Gunter, S.A., Christian, S.L., Collins, S., Adams, C., et al. (2015). PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain, 138(Pt 6), 1613-1628. https://doi.org/10.1093/brain/awv045
- Katzel, D., Nicholson, E., Schorge, S., Walker, M.C., and Kullmann, D.M. (2014). Chemical-genetic attenuation of focal neocortical seizures. Nat Commun, 5, 3847. https://doi.org/10.1038/ncomms4847
- Kim, J., Kim, D., Lim, J.S., Maeng, J.H., Son, H., Kang, H.-C., Nam, H., Lee, J.H., and Kim, S. (2017). Accurate detection of low-level somatic mutations with technical replication for next-generation sequencing. bioRxiv. doi: https://doi.org/10.1101/179713.
- Koh, H.Y., Kim, S.H., Jang, J., Kim, H., Han, S., Lim, J.S., Son, G., Choi, J., Park, B.O., Do Heo, W., et al. (2018). BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors. Nat. Med.
- Krook-Magnuson, E., Armstrong, C., Oijala, M., and Soltesz, I. (2013). On-demand optogenetic control of spontaneous seizures in temporal lobe epilepsy. Nat. Commun. 4, 1376. https://doi.org/10.1038/ncomms2376
- Lee, J.H. (2016). Somatic mutations in disorders with disrupted brain connectivity. Exp. Mol. Med. 48, e239. https://doi.org/10.1038/emm.2016.53
- Lee, J.H., Huynh, M., Silhavy, J.L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K.J., Collazo, 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
- Leventer, R.J., Scerri, T., Marsh, A.P., Pope, K., Gillies, G., Maixner, W., MacGregor, D., Harvey, A.S., Delatycki, M.B., Amor, D.J., et al. (2015). Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. Neurology 84, 2029-2032. https://doi.org/10.1212/WNL.0000000000001594
- Lim, E.T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A.S., Zhang, X., D'Gama, A.M., Kim, S,N., Hill, R.S., Goldberg, A.P., et al. (2017). Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat. Neurosci. 20, 1217-1224. https://doi.org/10.1038/nn.4598
- Lim, J.S., Gopalappa, R., Kim, S.H., Ramakrishna, S., Lee, M., Kim, W.I., Kim, J., Park, S.M., Lee, J., Oh, J.H., Kim, H.D. (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
- Lim, J.S., Kim, W.I., Kang, H.C., Kim, S.H., Park, A.H., Park, E.K., Cho, Y.W., Kim, S., Kim, H.M., Kim, J.A., 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
- Lodato, M.A., Rodin, R.E., Bohrson, C.L., Coulter, M.E., Barton, A.R., Kwon, M., Sherman, M.A., Vitzthum, C.M., Luquette, L.J., Yandava, C.N., et al. (2018). Aging and neurodegeneration are associated with increased mutations in single human neurons. Science, 359, 555-559. https://doi.org/10.1126/science.aao4426
- Loscher, W. (2011). Critical review of current animal models of seizures and epilepsy used in the discovery and development of new antiepileptic drugs. Seizure, 20(5), 359-368. https://doi.org/10.1016/j.seizure.2011.01.003
- Loscher, W., Klitgaard, H., Twyman, R.E., and Schmidt, D. (2013). New avenues for anti-epileptic drug discovery and development. Nat. Rev. Drug Discov. 12(10), 757-776. https://doi.org/10.1038/nrd4126
- McConnell, M.J., Moran, J.V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J.A., Fasching, L., Flasch, D.A., Freed, D., et al. (2017). Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 356,
- Mirzaa, G.M., Campbell, C.D., Solovieff, N., Goold, C., Jansen, L.A., Menon, S., Timms, A.E., Conti, V., Biag, J.D., Adams, C., et al. (2016). Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol. 73, 836-845. https://doi.org/10.1001/jamaneurol.2016.0363
- Moller, R.S., Weckhuysen, S., Chipaux, M., Marsan, E., Taly, V., Bebin, E.M., Hiatt S.M., Prokop, J.W., Bowling, K.M., Mei, D., et al. (2016). Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2, e118. https://doi.org/10.1212/NXG.0000000000000118
- Myers, C.T., and Mefford, H.C. (2015). Advancing epilepsy genetics in the genomic era. Genome Med. 7, 91. https://doi.org/10.1186/s13073-015-0214-7
- Nakashima, M., Miyajima, M., Sugano, H., Iimura, Y., Kato, M., Tsurusaki, Y., Miyake, N., Saitsu, H., Arai, H., and Matsumoto, N. (2014). The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J. Hum. Genet. 59, 691-693. https://doi.org/10.1038/jhg.2014.95
- Nakashima, M., Saitsu, H., Takei, N., Tohyama, J., Kato, M., Kitaura, H., Shiina, M., Shirozu, H., Masuda, H., Watanabe, K., et al. (2015). Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann. Neurol. 78, 375-386. https://doi.org/10.1002/ana.24444
- Nikolaev, S.I., Vetiska, S., Bonilla, X., Boudreau, E., Jauhiainen, S., Rezai Jahromi, B., Khyzha, N., DiStefano, P.V., Suutarinen, S., Kiehl, T.R., et al. (2018). Somatic activating KRAS mutations in arteriovenous malformations of the brain. N. Engl. J. Med. 378, 250-261. https://doi.org/10.1056/NEJMoa1709449
- Perry, M.S., and Duchowny, M. (2013). Surgical versus medical treatment for refractory epilepsy: outcomes beyond seizure control. Epilepsia 54, 2060-2070. https://doi.org/10.1111/epi.12427
- Pinault, D. (2003). Cellular interactions in the rat somatosensory thalamocortical system during normal and epileptic 5-9 Hz oscillations. J. Physiol. 552(Pt 3), 881-905. https://doi.org/10.1113/jphysiol.2003.046573
- Poduri, A., Evrony, G.D., Cai, X., Elhosary, P.C., Beroukhim, R., Lehtinen, M.K., Hills, L.B., Heinzen, E.L., Hill, A., Hill, R.S., et al. (2012). Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74, 41-48. https://doi.org/10.1016/j.neuron.2012.03.010
- Quail, M.A., Smith, M., Coupland, P., Otto, T.D., Harris, S.R., Connor, T.R., Bertoni, A., Swerdlow, H.P., and Gu, Y. (2012). A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13, 341. https://doi.org/10.1186/1471-2164-13-341
- Ribierre, T., Deleuze, C., Bacq, A., Baldassari, S., Marsan, E., Chipaux, M., Muraca G., Roussel, D., Navarro, V., Leguern, E., et al. (2018). Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. J. Clin. Invest. 128, 2452-2458. https://doi.org/10.1172/JCI99384
- Roth, B.L. (2016). DREADDs for Neuroscientists. Neuron 89, 683-694. https://doi.org/10.1016/j.neuron.2016.01.040
- Schindler, G., Capper, D., Meyer, J., Janzarik, W., Omran, H., Herold-Mende, C., Schmieder, K., Wesseling, P., Mawrin, C., Hasselblatt, M., et al. (2011). Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 121, 397-405. https://doi.org/10.1007/s00401-011-0802-6
- Schirmer, M., Ijaz, U.Z., D'Amore, R., Hall, N., Sloan, W.T., and Quince, C. (2015). Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform. Nucleic Acids Res. 43, e37. https://doi.org/10.1093/nar/gku1341
- Shinmyo, Y., and Kawasaki, H. (2017). CRISPR/Cas9-Mediated Gene Knockout in the Mouse Brain Using In Utero Electroporation. Curr. Protoc. Neurosci 79, 3. 32.1-3.32.11.
- Shirley, M.D., Tang, H., Gallione, C.J., Baugher, J.D., Frelin, L.P., Cohen, B., North, P.E., Marchuk, D.A., Comi, A.M., and Pevsner, J. (2013). Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl. J. Med. 368, 1971-1979. https://doi.org/10.1056/NEJMoa1213507
- Singh, A., and Trevick, S. (2016). The Epidemiology of Global Epilepsy. Neurol. Clin. 34, 837-847. https://doi.org/10.1016/j.ncl.2016.06.015
- Stead, L.F., Sutton, K.M., Taylor, G.R., Quirke, P., and Rabbitts, P. (2013). Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: applications in tumor subclone resolution. Hum. Mutat. 34, 1432-1438. https://doi.org/10.1002/humu.22365
- Tezer, F.I., Akalan, N., Oguz, K.K., Karabulut, E., Dericioglu, N., Ciger, A., and Saygi, S. (2008). Predictive factors for postoperative outcome in temporal lobe epilepsy according to two different classifications. Seizure 17, 549-560. https://doi.org/10.1016/j.seizure.2008.02.003
- Tian, G.F., Azmi, H., Takano, T., Xu, Q., Peng, W., Lin, J., Oberheim, N., Lou, N., Wang, X., Zielke, H.R., et al. (2005). An astrocytic basis of epilepsy. Nat. Med. 11, 973-981. https://doi.org/10.1038/nm1277
- Winawer, M.R., Griffin, N.G., Samanamud, J., Baugh, E.H., Rathakrishnan, D., Ramalingam, S., Zagzag, D., Schevon, C.A., Dugan, P., Hegde, M., et al. (2018). Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann. Neurol. 83, 1133-1146. https://doi.org/10.1002/ana.25243
- Xu, H., DiCarlo, J., Satya, R.V., Peng, Q., and Wang, Y. (2014). Comparison of somatic mutation calling methods in amplicon and whole exome sequence data. BMC Genomics 15, 244. https://doi.org/10.1186/1471-2164-15-244
- Xu, J., Pham, C.G., Albanese, S.K., Dong, Y., Oyama, T., Lee, C.H., Rodrik-Outmezguine, V., Yao, J., Han, S., Chen, D., et al. (2016). Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin. J. Clin. Invest. 126, 3526-3540. https://doi.org/10.1172/JCI86120
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