-
1
-
-
84925408245
-
Genetics advances in autosomal dominant focal epilepsies: Focus on DEPDC5
-
Baulac S,. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res 2014; 213: 123-139.
-
(2014)
Prog Brain Res
, vol.213
, pp. 123-139
-
-
Baulac, S.1
-
2
-
-
84925386380
-
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy
-
Steinlein OK,. Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. Prog Brain Res 2014; 213: 1-15.
-
(2014)
Prog Brain Res
, vol.213
, pp. 1-15
-
-
Steinlein, O.K.1
-
3
-
-
84857032036
-
Neuropathologic measurements in focal cortical dysplasias: Validation of the ILAE 2011 classification system and diagnostic implications for MRI
-
Muhlebner A, Coras R, Kobow K, et al. Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI. Acta Neuropathol 2012; 123: 259-272.
-
(2012)
Acta Neuropathol
, vol.123
, pp. 259-272
-
-
Muhlebner, A.1
Coras, R.2
Kobow, K.3
-
4
-
-
0348141676
-
Malformations of cortical development: Burdens and insights from important causes of human epilepsy
-
Sisodiya SM,. Malformations of cortical development: burdens and insights from important causes of human epilepsy. Lancet Neurol 2004; 3: 29-38.
-
(2004)
Lancet Neurol
, vol.3
, pp. 29-38
-
-
Sisodiya, S.M.1
-
5
-
-
0033910075
-
Stereoelectroencephalography in focal cortical dysplasia: A 3D approach to delineating the dysplastic cortex
-
Chassoux F, Devaux B, Landre E, et al. Stereoelectroencephalography in focal cortical dysplasia: a 3D approach to delineating the dysplastic cortex. Brain 2000; 123 (pt 8): 1733-1751.
-
(2000)
Brain
, vol.123
, Issue.PART 8
, pp. 1733-1751
-
-
Chassoux, F.1
Devaux, B.2
Landre, E.3
-
6
-
-
84856322691
-
Type II focal cortical dysplasia: Electroclinical phenotype and surgical outcome related to imaging
-
Chassoux F, Landre E, Mellerio C, et al. Type II focal cortical dysplasia: electroclinical phenotype and surgical outcome related to imaging. Epilepsia 2012; 53: 349-358.
-
(2012)
Epilepsia
, vol.53
, pp. 349-358
-
-
Chassoux, F.1
Landre, E.2
Mellerio, C.3
-
7
-
-
77956202907
-
Focal cortical dysplasias: Clinical implication of neuropathological classification systems
-
Spreafico R, Blumcke I,. Focal cortical dysplasias: clinical implication of neuropathological classification systems. Acta Neuropathol 2010; 120: 359-367.
-
(2010)
Acta Neuropathol
, vol.120
, pp. 359-367
-
-
Spreafico, R.1
Blumcke, I.2
-
8
-
-
78651274775
-
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission
-
Blumcke I, Thom M, Aronica E, 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 2011; 52: 158-174.
-
(2011)
Epilepsia
, vol.52
, pp. 158-174
-
-
Blumcke, I.1
Thom, M.2
Aronica, E.3
-
9
-
-
84896360859
-
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility
-
Leventer RJ, Jansen FE, Mandelstam SA, et al. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia 2014; 55: e22-e26.
-
(2014)
Epilepsia
, vol.55
, pp. e22-e26
-
-
Leventer, R.J.1
Jansen, F.E.2
Mandelstam, S.A.3
-
10
-
-
68349117160
-
Focal cortical dysplasia type II: Biological features and clinical perspectives
-
Sisodiya SM, Fauser S, Cross JH, Thom M,. Focal cortical dysplasia type II: biological features and clinical perspectives. Lancet Neurol 2009; 8: 830-843.
-
(2009)
Lancet Neurol
, vol.8
, pp. 830-843
-
-
Sisodiya, S.M.1
Fauser, S.2
Cross, J.H.3
Thom, M.4
-
11
-
-
84878352545
-
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
-
Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013; 45: 546-551.
-
(2013)
Nat Genet
, vol.45
, pp. 546-551
-
-
Dibbens, L.M.1
De Vries, B.2
Donatello, S.3
-
12
-
-
84878366242
-
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
-
Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet 2013; 45: 552-555.
-
(2013)
Nat Genet
, vol.45
, pp. 552-555
-
-
Ishida, S.1
Picard, F.2
Rudolf, G.3
-
13
-
-
84903974365
-
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
-
Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology 2014; 82: 2101-2106.
-
(2014)
Neurology
, vol.82
, pp. 2101-2106
-
-
Picard, F.1
Makrythanasis, P.2
Navarro, V.3
-
14
-
-
84902273128
-
DEPDC5 mutations in genetic focal epilepsies of childhood
-
Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 2014; 75: 788-792.
-
(2014)
Ann Neurol
, vol.75
, pp. 788-792
-
-
Lal, D.1
Reinthaler, E.M.2
Schubert, J.3
-
15
-
-
84902281810
-
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
-
Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014; 75: 782-787.
-
(2014)
Ann Neurol
, vol.75
, pp. 782-787
-
-
Scheffer, I.E.1
Heron, S.E.2
Regan, B.M.3
-
16
-
-
84878357685
-
A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1
-
Bar-Peled L, Chantranupong L, Cherniack AD, et al. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 2013; 340: 1100-1106.
-
(2013)
Science
, vol.340
, pp. 1100-1106
-
-
Bar-Peled, L.1
Chantranupong, L.2
Cherniack, A.D.3
-
17
-
-
84878353147
-
Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the rag family GTPase Gtr1
-
Panchaud N, Peli-Gulli MP, De Virgilio C,. Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the rag family GTPase Gtr1. Sci Signal 2013; 6: ra42.
-
(2013)
Sci Signal
, vol.6
, pp. ra42
-
-
Panchaud, N.1
Peli-Gulli, M.P.2
De Virgilio, C.3
-
18
-
-
84859778293
-
MTOR signaling in growth control and disease
-
Laplante M, Sabatini DM,. mTOR signaling in growth control and disease. Cell 2012; 149: 274-293.
-
(2012)
Cell
, vol.149
, pp. 274-293
-
-
Laplante, M.1
Sabatini, D.M.2
-
19
-
-
84884171372
-
Focal malformations of cortical development: New vistas for molecular pathogenesis
-
Lim KC, Crino PB,. Focal malformations of cortical development: new vistas for molecular pathogenesis. Neuroscience 2013; 252: 262-276.
-
(2013)
Neuroscience
, vol.252
, pp. 262-276
-
-
Lim, K.C.1
Crino, P.B.2
-
20
-
-
84878867454
-
Evolving neurobiology of tuberous sclerosis complex
-
Crino PB,. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol 2013; 125: 317-332.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 317-332
-
-
Crino, P.B.1
-
21
-
-
84877766754
-
Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder
-
Parker WE, Orlova KA, Parker WH, et al. Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder. Sci Transl Med 2013; 5: 182ra53.
-
(2013)
Sci Transl Med
, vol.5
, pp. 182ra53
-
-
Parker, W.E.1
Orlova, K.A.2
Parker, W.H.3
-
22
-
-
84864402732
-
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
-
Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012; 44: 941-945.
-
(2012)
Nat Genet
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
Huynh, M.2
Silhavy, J.L.3
-
23
-
-
84920141663
-
Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
-
Lasarge CL, Danzer SC,. Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Front Mol Neurosci 2014; 7: 18.
-
(2014)
Front Mol Neurosci
, vol.7
, pp. 18
-
-
Lasarge, C.L.1
Danzer, S.C.2
-
24
-
-
17344377862
-
Dominant partial epilepsies
-
Picard F, Baulac S, Kahane P, et al. Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain 2000; 123 (pt 6): 1247-1262.
-
(2000)
A Clinical, Electrophysiological and Genetic Study of 19 European Families. Brain
, vol.123
, Issue.PART 6
, pp. 1247-1262
-
-
Picard, F.1
Baulac, S.2
Kahane, P.3
-
25
-
-
48349118613
-
Non-invasive pre-surgical investigation of a 10 year-old epileptic boy using simultaneous EEG-NIRS
-
Gallagher A, Lassonde M, Bastien D, et al. Non-invasive pre-surgical investigation of a 10 year-old epileptic boy using simultaneous EEG-NIRS. Seizure 2008; 17: 576-582.
-
(2008)
Seizure
, vol.17
, pp. 576-582
-
-
Gallagher, A.1
Lassonde, M.2
Bastien, D.3
-
26
-
-
84902167691
-
DEPDC5 does it all: Shared genetics for diverse epilepsy syndromes
-
Poduri A,. DEPDC5 does it all: shared genetics for diverse epilepsy syndromes. Ann Neurol 2014; 75: 631-633.
-
(2014)
Ann Neurol
, vol.75
, pp. 631-633
-
-
Poduri, A.1
-
27
-
-
84870868774
-
Optimizing MR imaging detection of type 2 focal cortical dysplasia: Best criteria for clinical practice
-
Mellerio C, Labeyrie MA, Chassoux F, et al. Optimizing MR imaging detection of type 2 focal cortical dysplasia: best criteria for clinical practice. AJNR Am J Neuroradiol 2012; 33: 1932-1938.
-
(2012)
AJNR Am J Neuroradiol
, vol.33
, pp. 1932-1938
-
-
Mellerio, C.1
Labeyrie, M.A.2
Chassoux, F.3
-
28
-
-
73149095464
-
Taylor's focal cortical dysplasia increases the risk of sleep-related epilepsy
-
Nobili L, Cardinale F, Magliola U, et al. Taylor's focal cortical dysplasia increases the risk of sleep-related epilepsy. Epilepsia 2009; 50: 2599-2604.
-
(2009)
Epilepsia
, vol.50
, pp. 2599-2604
-
-
Nobili, L.1
Cardinale, F.2
Magliola, U.3
-
29
-
-
84903987208
-
Automated detection of cortical dysplasia type II in MRI-negative epilepsy
-
Hong SJ, Kim H, Schrader D, et al. Automated detection of cortical dysplasia type II in MRI-negative epilepsy. Neurology 2014; 83: 48-55.
-
(2014)
Neurology
, vol.83
, pp. 48-55
-
-
Hong, S.J.1
Kim, H.2
Schrader, D.3
-
30
-
-
84908007872
-
Epilepsy surgery in children and adults
-
Ryvlin P, Cross JH, Rheims S,. Epilepsy surgery in children and adults. Lancet Neurol 2014; 13: 1114-1126.
-
(2014)
Lancet Neurol
, vol.13
, pp. 1114-1126
-
-
Ryvlin, P.1
Cross, J.H.2
Rheims, S.3
-
31
-
-
78650836354
-
FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasias
-
Chassoux F, Rodrigo S, Semah F, et al. FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasias. Neurology 2010; 75: 2168-2175.
-
(2010)
Neurology
, vol.75
, pp. 2168-2175
-
-
Chassoux, F.1
Rodrigo, S.2
Semah, F.3
-
32
-
-
34548688700
-
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
-
Marini C, Guerrini R,. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol 2007; 74: 1308-1314.
-
(2007)
Biochem Pharmacol
, vol.74
, pp. 1308-1314
-
-
Marini, C.1
Guerrini, R.2
-
33
-
-
84886826594
-
MTOR complexes in neurodevelopmental and neuropsychiatric disorders
-
Costa-Mattioli M, Monteggia LM,. mTOR complexes in neurodevelopmental and neuropsychiatric disorders. Nat Neurosci 2013; 16: 1537-1543.
-
(2013)
Nat Neurosci
, vol.16
, pp. 1537-1543
-
-
Costa-Mattioli, M.1
Monteggia, L.M.2
-
34
-
-
84855958205
-
MTOR: A pathogenic signaling pathway in developmental brain malformations
-
Crino PB,. mTOR: A pathogenic signaling pathway in developmental brain malformations. Trends Mol Med 2011; 17: 734-742.
-
(2011)
Trends Mol Med
, vol.17
, pp. 734-742
-
-
Crino, P.B.1
-
35
-
-
84904285647
-
Pathogenetic mechanisms of focal cortical dysplasia
-
Marin-Valencia I, Guerrini R, Gleeson JG,. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia 2014; 55: 970-978.
-
(2014)
Epilepsia
, vol.55
, pp. 970-978
-
-
Marin-Valencia, I.1
Guerrini, R.2
Gleeson, J.G.3
-
36
-
-
84879756120
-
Somatic mutation, genomic variation, and neurological disease
-
Poduri A, Evrony GD, Cai X, Walsh CA,. Somatic mutation, genomic variation, and neurological disease. Science 2013; 341: 1237758.
-
(2013)
Science
, vol.341
, pp. 1237758
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Walsh, C.A.4
-
37
-
-
77953701040
-
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
-
Depienne C, Trouillard O, Gourfinkel-An I, et al. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 2010; 47: 404-410.
-
(2010)
J Med Genet
, vol.47
, pp. 404-410
-
-
Depienne, C.1
Trouillard, O.2
Gourfinkel-An, I.3
-
38
-
-
77952967359
-
Biallelic TSC gene inactivation in tuberous sclerosis complex
-
Crino PB, Aronica E, Baltuch G, Nathanson KL,. Biallelic TSC gene inactivation in tuberous sclerosis complex. Neurology 2010; 74: 1716-1723.
-
(2010)
Neurology
, vol.74
, pp. 1716-1723
-
-
Crino, P.B.1
Aronica, E.2
Baltuch, G.3
Nathanson, K.L.4
-
39
-
-
84907313347
-
Somatic mutations in cerebral cortical malformations
-
Jamuar SS, Lam AT, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 2014; 371: 733-743.
-
(2014)
N Engl J Med
, vol.371
, pp. 733-743
-
-
Jamuar, S.S.1
Lam, A.T.2
Kircher, M.3
|