S. Abdijadid, G. W. Mathern, M. S. Levine, and C. Cepeda, Basic mechanisms of epileptogenesis in pediatric cortical dysplasia, CNS Neurosci Ther, vol.21, pp.92-103, 2015.

S. T. Baek, B. Copeland, E. J. Yun, S. K. Kwon, A. Guemez-gamboa et al., An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development, Nat Med, vol.21, pp.1445-1454, 2015.

S. Baldassari, F. Picard, N. E. Verbeek, M. Van-kempen, E. H. Brilstra et al., The landscape of epilepsy-related GATOR1 variants, Genet Med, vol.21, pp.398-408, 2019.
URL : https://hal.archives-ouvertes.fr/hal-02063270

A. J. Barkovich, W. B. Dobyns, and R. Guerrini, Malformations of cortical development and epilepsy, Cold Spring Harb Perspect Med, vol.5, p.22392, 2015.

S. Baulac, S. Ishida, E. Marsan, C. Miquel, A. Biraben et al., Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations, Ann Neurol, vol.77, pp.675-683, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01142443

I. Blumcke, R. Spreafico, G. Haaker, R. Coras, K. Kobow et al., Histopathological findings in brain tissue obtained during epilepsy surgery, N Engl J Med, vol.377, pp.1648-1656, 2017.

I. Blumcke, M. Thom, E. Aronica, D. D. Armstrong, H. V. Vinters et al., The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission, Epilepsia, vol.52, pp.158-174, 2011.
URL : https://hal.archives-ouvertes.fr/inserm-00592131

F. Chassoux, B. Devaux, E. Landre, B. Turak, F. Nataf et al., Stereoelectroencephalography in focal cortical dysplasia: a 3D approach to delineating the dysplastic cortex, Brain, vol.123, pp.1733-1751, 2000.

A. M. D'gama, Y. Geng, J. A. Couto, B. Martin, E. A. Boyle et al., Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia, Ann Neurol, vol.77, pp.720-725, 2015.

A. M. D'gama, M. B. Woodworth, A. A. Hossain, S. Bizzotto, N. E. Hatem et al., Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias, Cell Rep, vol.21, pp.3754-3766, 2017.

C. Dolle, I. Flones, G. S. Nido, H. Miletic, N. Osuagwu et al., Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease, Nature Commun, vol.7, p.13548, 2016.

G. Dorfmuller, S. Ferrand-sorbets, M. Fohlen, C. Bulteau, F. Archambaud et al., Outcome of surgery in children with focal cortical dysplasia younger than 5 years explored by stereo-electroencephalography, Childs Nerv Syst, vol.30, pp.1875-1883, 2014.

K. Dorre, M. Olczak, Y. Wada, P. Sosicka, M. Gruneberg et al., A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach, J Inherit Metab Dis, vol.38, pp.931-940, 2015.

R. Guerrini and W. B. Dobyns, Malformations of cortical development: clinical features and genetic causes, Lancet Neurol, vol.13, pp.710-726, 2014.

R. Guerrini, M. Duchowny, P. Jayakar, P. Krsek, P. Kahane et al., Diagnostic methods and treatment options for focal cortical dysplasia, Epilepsia, vol.56, pp.1669-1686, 2015.

L. S. Hsieh, J. H. Wen, K. Claycomb, Y. Huang, F. A. Harrsch et al., Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement, Nat Commun, vol.7, p.11753, 2016.

S. Hu, R. C. Knowlton, B. O. Watson, K. M. Glanowska, G. G. Murphy et al., Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA, Ann Neurol, vol.84, pp.140-146, 2018.

. Iffland-ph-2nd and P. B. Crino, Focal cortical dysplasia: gene mutations, cell signaling, and therapeutic implications, Annu Rev Pathol, vol.12, pp.547-571, 2017.

L. A. Jansen, G. M. Mirzaa, G. E. Ishak, B. J. O'roak, J. B. Hiatt et al., PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia, Brain, vol.138, pp.1613-1628, 2015.

J. Kim, D. Kim, J. S. Lim, J. H. Maeng, H. Son et al., The use of technical replication for detection of low-level somatic mutations in next-generation sequencing, Nature Commun, vol.10, p.1047, 2019.

A. G. Knudson, Mutation and cancer: statistical study of retinoblastoma, Proc Natl Acad Sci, vol.68, pp.820-823, 1971.

K. Kobow, M. Ziemann, H. Kaipananickal, I. Khurana, A. Muhlebner et al., Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia, Epilepsia, vol.60, pp.1091-1103, 2019.

M. Laplante and D. M. Sabatini, mTOR signaling in growth control and disease, Cell, vol.149, pp.274-293, 2012.

C. L. Lasarge and S. C. Danzer, Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation, Frontiers Mol Neurosci, vol.7, p.18, 2014.

J. H. Lee, M. Huynh, J. L. Silhavy, S. Kim, T. Dixon-salazar et al., De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly, Nat Genet, vol.44, pp.941-945, 2012.

R. J. Leventer, T. Scerri, A. P. Marsh, K. Pope, G. Gillies et al., Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR, Neurology, vol.84, pp.2029-2032, 2015.

J. S. Lim, R. Gopalappa, S. H. Kim, S. Ramakrishna, M. Lee et al., Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia, Am J Hum Genet, vol.100, pp.454-472, 2017.

J. S. Lim, W. I. Kim, H. C. Kang, S. H. Kim, A. H. Park et al., Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy, Nat Med, vol.21, pp.395-400, 2015.

E. Marsan and S. Baulac, Review: mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy, Neuropathol Appl Neurobiol, vol.44, pp.6-17, 2018.
URL : https://hal.archives-ouvertes.fr/hal-02274845

K. R. Martin, W. Zhou, M. J. Bowman, J. Shih, K. S. Au et al., The genomic landscape of tuberous sclerosis complex, Nat Commun, vol.8, p.15816, 2017.

G. M. Mirzaa, C. D. Campbell, N. Solovieff, C. Goold, L. A. Jansen et al., Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism, JAMA Neurol, vol.73, pp.836-845, 2016.

R. S. Moller, S. Weckhuysen, M. Chipaux, E. Marsan, V. Taly et al., Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy, Neurol Genet, vol.2, p.118, 2016.

I. M. Najm, H. B. Sarnat, and I. Blumcke, Review: the international consensus classification of focal cortical dysplasia-a critical update, Neuropathol Appl Neurobiol, vol.44, pp.18-31, 2018.

M. Nakashima, H. Saitsu, N. Takei, J. Tohyama, M. Kato et al., Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb, Ann Neurol, vol.78, pp.375-386, 2015.

B. G. Ng, K. J. Buckingham, K. Raymond, M. Kircher, E. H. Turner et al., Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation, Am J Hum Genet, vol.92, pp.632-636, 2013.

S. Nichterwitz, J. A. Benitez, R. Hoogstraaten, Q. Deng, and E. Hedlund, LCM-Seq: a method for spatial transcriptomic profiling using laser capture microdissection coupled with Polya-based RNA sequencing, Methods Mol Biol, vol.1649, pp.95-110, 2018.

K. A. Orlova, V. Tsai, M. Baybis, G. G. Heuer, S. Sisodiya et al., Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias, J Neuropathol Exp Neurol, vol.69, pp.850-863, 2010.

A. Palmini, I. Najm, G. Avanzini, T. Babb, R. Guerrini et al., Terminology and classification of the cortical dysplasias, Neurology, vol.62, pp.2-8, 2004.

A. Poduri, G. D. Evrony, X. Cai, P. C. Elhosary, R. Beroukhim et al., Somatic activation of AKT3 causes hemispheric developmental brain malformations, Neuron, vol.74, pp.41-48, 2012.

A. Poduri, G. D. Evrony, X. Cai, and C. A. Walsh, Somatic mutation, genomic variation, and neurological disease, Science, vol.341, p.1237758, 2013.

T. Ribierre, C. Deleuze, A. Bacq, S. Baldassari, E. Marsan et al., Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy, J Clin Invest, vol.128, pp.2452-2458, 2018.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, pp.405-424, 2015.

L. Rossini, F. Villani, T. Granata, L. Tassi, G. Tringali et al., FCD Type II and mTOR pathway: evidence for different mechanisms involved in the pathogenesis of dysmorphic neurons, Epilepsy Res, vol.129, pp.146-156, 2017.

V. Salinas, P. Vega, M. V. Piccirilli, C. Chicco, C. Ciraolo et al., Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant epilepsy, Eur J Med Genet, 2018.

N. S. Sim, Y. Seo, J. S. Lim, W. K. Kim, H. Son et al., Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation, Neurol Genet, vol.4, p.294, 2018.

M. Thom, L. Martinian, A. Sen, J. H. Cross, B. N. Harding et al., Cortical neuronal densities and lamination in focal cortical dysplasia, Acta Neuropathol, vol.110, pp.383-392, 2005.

Q. Venot, T. Blanc, S. H. Rabia, L. Berteloot, S. Ladraa et al., Targeted therapy in patients with PIK3CA-related overgrowth syndrome, Nature, vol.558, pp.540-546, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01877949

M. R. Winawer, N. G. Griffin, J. Samanamud, E. H. Baugh, D. Rathakrishnan et al., Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy, Ann Neurol, vol.83, pp.1133-1146, 2018.

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