Video Upload Options

References

1. Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T. GATOR1 complex:the common genetic actor in focal epilepsies. J Med Genet. 2016 Aug;53(8):503-10.doi: 10.1136/jmedgenet-2016-103883.
2. Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D,Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E,Andermann F, Leguern E, Chassoux F, Picard F. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr;77(4):675-83.doi: 10.1002/ana.24368.
3. Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus onDEPDC5. Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.Review.
4. Baulac S. mTOR signaling pathway genes in focal epilepsies. Prog Brain Res.2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013.
5. Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S,Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-LópezR, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J,Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM,Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause familial focalepilepsy with variable foci. Nat Genet. 2013 May;45(5):546-51. doi:10.1038/ng.2599.
6. Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, MundwillerE, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S.Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013May;45(5):552-5. doi: 10.1038/ng.2601.
7. Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL,Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P,Ricos MG, Berkovic SF, Dibbens LM. Mutations in mammalian target of rapamycinregulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126.
8. Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, vanRoozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L,Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ,Leventer RJ. Familial cortical dysplasia caused by mutation in the mammaliantarget of rapamycin regulator NPRL3. Ann Neurol. 2016 Jan;79(1):132-7. doi:10.1002/ana.24502.
9. van Kranenburg M, Hoogeveen-Westerveld M, Nellist M. Preliminary functionalassessment and classification of DEPDC5 variants associated with focal epilepsy. Hum Mutat. 2015 Feb;36(2):200-9. doi: 10.1002/humu.22723.
10. Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, MeursA, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. Involvement of GATORcomplex genes in familial focal epilepsies and focal cortical dysplasia.Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391.