-
1
-
-
4544304630
-
-
Lippincott Williams and Wilkins, Philadelphia, PA.
-
Arzimanoglou A, Guerrini R, Aicardi J,. (2004) Aicardi's epilepsy in children. Lippincott Williams and Wilkins, Philadelphia, PA.
-
(2004)
Aicardi's Epilepsy in Children
-
-
Arzimanoglou, A.1
Guerrini, R.2
Aicardi, J.3
-
2
-
-
57249087382
-
Lennox-Gastaut syndrome: A consensus approach on diagnosis, assessment, management, and trial methodology
-
Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht M, Genton P, Guerrini R, Kluger G, Pellock JM, Perucca E, Wheless JW,. (2009) Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol 8: 82-93.
-
(2009)
Lancet Neurol
, vol.8
, pp. 82-93
-
-
Arzimanoglou, A.1
French, J.2
Blume, W.T.3
Cross, J.H.4
Ernst, J.P.5
Feucht, M.6
Genton, P.7
Guerrini, R.8
Kluger, G.9
Pellock, J.M.10
Perucca, E.11
Wheless, J.W.12
-
3
-
-
80052859434
-
Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3
-
Azmanov DN, Zhelyazkova S, Radionova M, Morar B, Angelicheva D, Zlatareva D, Kaneva R, Tournev I, Kalaydjieva L, Sander JW,. (2011) Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3. Epilepsy Res 96: 101-108.
-
(2011)
Epilepsy Res
, vol.96
, pp. 101-108
-
-
Azmanov, D.N.1
Zhelyazkova, S.2
Radionova, M.3
Morar, B.4
Angelicheva, D.5
Zlatareva, D.6
Kaneva, R.7
Tournev, I.8
Kalaydjieva, L.9
Sander, J.W.10
-
4
-
-
0023197659
-
Interdependence of different genetic EEG patterns in siblings of epileptic patients
-
Baier WK, Doose H,. (1987) Interdependence of different genetic EEG patterns in siblings of epileptic patients. Electroencephalogr Clin Neurophysiol 66: 483-488.
-
(1987)
Electroencephalogr Clin Neurophysiol
, vol.66
, pp. 483-488
-
-
Baier, W.K.1
Doose, H.2
-
5
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
-
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE,. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51: 676-685.
-
(2010)
Epilepsia
, vol.51
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
Cross, J.H.5
Van Emde Boas, W.6
Engel, J.7
French, J.8
Glauser, T.A.9
Mathern, G.W.10
Moshe, S.L.11
Nordli, D.12
Plouin, P.13
Scheffer, I.E.14
-
6
-
-
0031748082
-
Epilepsies in twins: Genetics of the major epilepsy syndromes
-
Berkovic SF, Howell RA, Hay DA, Hopper JL,. (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43: 435-445.
-
(1998)
Ann Neurol
, vol.43
, pp. 435-445
-
-
Berkovic, S.F.1
Howell, R.A.2
Hay, D.A.3
Hopper, J.L.4
-
7
-
-
33746302765
-
Human epilepsies: Interaction of genetic and acquired factors
-
Berkovic SF, Mulley JC, Scheffer IE, Petrou S,. (2006) Human epilepsies: interaction of genetic and acquired factors. Trends Neurosci 29: 391-397.
-
(2006)
Trends Neurosci
, vol.29
, pp. 391-397
-
-
Berkovic, S.F.1
Mulley, J.C.2
Scheffer, I.E.3
Petrou, S.4
-
8
-
-
0036286644
-
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy
-
Bonanni P, Parmeggiani L, Guerrini R,. (2002) Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. Epilepsia 43: 609-615.
-
(2002)
Epilepsia
, vol.43
, pp. 609-615
-
-
Bonanni, P.1
Parmeggiani, L.2
Guerrini, R.3
-
9
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy
-
Commission on Classification and Terminology of the International League Against Epilepsy.
-
Commission on Classification and Terminology of the International League Against Epilepsy. (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 30: 389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
10
-
-
80051592681
-
Possible genetic anticipation in families with idiopathic generalised epilepsy
-
Cvetkovska E, Panov S,. (2011) Possible genetic anticipation in families with idiopathic generalised epilepsy. Epileptic Disord 13: 150-154.
-
(2011)
Epileptic Disord
, vol.13
, pp. 150-154
-
-
Cvetkovska, E.1
Panov, S.2
-
11
-
-
73449141809
-
Generalized epilepsy with febrile seizures plus: Novel SCN1A mutation
-
Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I,. (2010) Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. Pediatr Neurol 42: 137-140.
-
(2010)
Pediatr Neurol
, vol.42
, pp. 137-140
-
-
Dimova, P.S.1
Yordanova, I.2
Bojinova, V.3
Jordanova, A.4
Kremenski, I.5
-
12
-
-
0002046120
-
Myoclonic astatic epilepsy of childhood
-
Roger J. Bureau M. Dravet Ch, Dreifuss F.E. Perret A. Wolf P. (Eds), John Libbey & Company, London
-
Doose H., (1992) Myoclonic astatic epilepsy of childhood. In, Roger J, Bureau M, Dravet Ch, Dreifuss FE, Perret A, Wolf P, (Eds) Epileptic syndromes in infancy, childhood and adolescence, John Libbey & Company, London, pp. 103 - 114.
-
(1992)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 103-114
-
-
Doose, H.1
-
13
-
-
0023597524
-
Epilepsy with primarily generalized myoclonic-astatic seizures: A genetically determined disease
-
Doose H, Baier WK,. (1987) Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease. Eur J Pediatr 146: 550-554.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 550-554
-
-
Doose, H.1
Baier, W.K.2
-
14
-
-
0024234888
-
Theta rhythms in the EEG: A genetic trait in childhood epilepsy
-
Doose H, Baier WK,. (1988) Theta rhythms in the EEG: a genetic trait in childhood epilepsy. Brain Dev 10: 347-354.
-
(1988)
Brain Dev
, vol.10
, pp. 347-354
-
-
Doose, H.1
Baier, W.K.2
-
15
-
-
0021064258
-
Childhood epilepsy in a German city
-
Doose H, Sitepu B,. (1983) Childhood epilepsy in a German city. Neuropediatrics 14: 220-224.
-
(1983)
Neuropediatrics
, vol.14
, pp. 220-224
-
-
Doose, H.1
Sitepu, B.2
-
16
-
-
0027521284
-
Photosensitivity - Genetics and clinical significance
-
Doose H, Waltz S,. (1993) Photosensitivity-genetics and clinical significance. Neuropediatrics 24: 249-255.
-
(1993)
Neuropediatrics
, vol.24
, pp. 249-255
-
-
Doose, H.1
Waltz, S.2
-
17
-
-
0014826210
-
Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation
-
Doose H, Gerken H, Leonhardt R, Volzke E, Volz C,. (1970) Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation. Neuropadiatrie 2: 59-78.
-
(1970)
Neuropadiatrie
, vol.2
, pp. 59-78
-
-
Doose, H.1
Gerken, H.2
Leonhardt, R.3
Volzke, E.4
Volz, C.5
-
18
-
-
0027137203
-
The Lennox-Gastaut syndrome
-
Dulac O, N'Guyen T,. (1993) The Lennox-Gastaut syndrome. Epilepsia 34 (Suppl. 7): S7-S17.
-
(1993)
Epilepsia
, vol.34
, Issue.SUPPL. 7
-
-
Dulac, O.1
N'Guyen, T.2
-
19
-
-
0035096682
-
Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type
-
Durner M, Keddache MA, Tomasini L, Shinnar S, Resor SR, Cohen J, Harden C, Moshe SL, Rosenbaum D, Kang H, Ballaban-Gil K, Hertz S, Labar DR, Luciano D, Wallace S, Yohai D, Klotz I, Dicker E, Greenberg DA,. (2001) Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 49: 328-335.
-
(2001)
Ann Neurol
, vol.49
, pp. 328-335
-
-
Durner, M.1
Keddache, M.A.2
Tomasini, L.3
Shinnar, S.4
Resor, S.R.5
Cohen, J.6
Harden, C.7
Moshe, S.L.8
Rosenbaum, D.9
Kang, H.10
Ballaban-Gil, K.11
Hertz, S.12
Labar, D.R.13
Luciano, D.14
Wallace, S.15
Yohai, D.16
Klotz, I.17
Dicker, E.18
Greenberg, D.A.19
-
20
-
-
23644433461
-
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures
-
Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Muller U, Neubauer BA,. (2005) SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 36: 210-213.
-
(2005)
Neuropediatrics
, vol.36
, pp. 210-213
-
-
Ebach, K.1
Joos, H.2
Doose, H.3
Stephani, U.4
Kurlemann, G.5
Fiedler, B.6
Hahn, A.7
Hauser, E.8
Hundt, K.9
Holthausen, H.10
Muller, U.11
Neubauer, B.A.12
-
21
-
-
0022413045
-
The axial spasm - The predominant type of drop seizure in patients with secondary generalized epilepsy
-
Egli M, Mothersill I, O'Kane M, O'Kane F,. (1985) The axial spasm-the predominant type of drop seizure in patients with secondary generalized epilepsy. Epilepsia 26: 401-415.
-
(1985)
Epilepsia
, vol.26
, pp. 401-415
-
-
Egli, M.1
Mothersill, I.2
O'Kane, M.3
O'Kane, F.4
-
22
-
-
33748676917
-
Report of the ILAE classification core group
-
Engel J Jr,. (2006) Report of the ILAE classification core group. Epilepsia 47: 1558-1568.
-
(2006)
Epilepsia
, vol.47
, pp. 1558-1568
-
-
Engel, Jr.J.1
-
23
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
-
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH,. (2001) A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am J Hum Genet 68: 866-873.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
24
-
-
33750578858
-
Neuropsychological findings: Myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS)
-
Filippini M, Boni A, Dazzani G, Guerra A, Gobbi G,. (2006) Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). Epilepsia 47 (Suppl. 2): 56-59.
-
(2006)
Epilepsia
, vol.47
, Issue.SUPPL. 2
, pp. 56-59
-
-
Filippini, M.1
Boni, A.2
Dazzani, G.3
Guerra, A.4
Gobbi, G.5
-
25
-
-
17044448250
-
Epileptic encephalopathy of children with diffuse slow spikes and waves (alias "petit mal variant") or Lennox syndrome
-
Gastaut H, Roger J, Soulayrol R, Saint-Jean M, Tassinari CA, Regis H, Bernard R, Pinsard N, Dravet C,. (1966) [Epileptic encephalopathy of children with diffuse slow spikes and waves (alias "petit mal variant") or Lennox syndrome]. Ann Pediatr 13: 489-499.
-
(1966)
Ann Pediatr
, vol.13
, pp. 489-499
-
-
Gastaut, H.1
Roger, J.2
Soulayrol, R.3
Saint-Jean, M.4
Tassinari, C.A.5
Regis, H.6
Bernard, R.7
Pinsard, N.8
Dravet, C.9
-
26
-
-
0038823525
-
The endophenotype concept in psychiatry: Etymology and strategic intentions
-
Gottesman II, Gould TD,. (2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 160: 636-645.
-
(2003)
Am J Psychiatry
, vol.160
, pp. 636-645
-
-
Gottesman, I.I.1
Gould, T.D.2
-
27
-
-
78651344374
-
Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies
-
Greenberg DA, Subaran R,. (2011) Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies. Epilepsia 52: 1-9.
-
(2011)
Epilepsia
, vol.52
, pp. 1-9
-
-
Greenberg, D.A.1
Subaran, R.2
-
28
-
-
0019378567
-
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical data
-
Gundel A, Baier W, Doose H, Hoovey Z,. (1981) Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical data. Neuropediatrics 12: 62-74.
-
(1981)
Neuropediatrics
, vol.12
, pp. 62-74
-
-
Gundel, A.1
Baier, W.2
Doose, H.3
Hoovey, Z.4
-
29
-
-
0014251524
-
True myoclonic epilepsy in childhood
-
Harper JR,. (1968) True myoclonic epilepsy in childhood. Arch Dis Child 43: 28-35.
-
(1968)
Arch Dis Child
, vol.43
, pp. 28-35
-
-
Harper, J.R.1
-
30
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciute D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kalviainen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Kramer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB,. (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86: 707-718.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
Need, A.C.6
Walley, N.M.7
Nicoletti, P.8
Ge, D.9
Catarino, C.B.10
Duncan, J.S.11
Kasperaviciute, D.12
Tate, S.K.13
Caboclo, L.O.14
Sander, J.W.15
Clayton, L.16
Linney, K.N.17
Shianna, K.V.18
Gumbs, C.E.19
Smith, J.20
Cronin, K.D.21
Maia, J.M.22
Doherty, C.P.23
Pandolfo, M.24
Leppert, D.25
Middleton, L.T.26
Gibson, R.A.27
Johnson, M.R.28
Matthews, P.M.29
Hosford, D.30
Kalviainen, R.31
Eriksson, K.32
Kantanen, A.M.33
Dorn, T.34
Hansen, J.35
Kramer, G.36
Steinhoff, B.J.37
Wieser, H.G.38
Zumsteg, D.39
Ortega, M.40
Wood, N.W.41
Huxley-Jones, J.42
Mikati, M.43
Gallentine, W.B.44
Husain, A.M.45
Buckley, P.G.46
Stallings, R.L.47
Podgoreanu, M.V.48
Delanty, N.49
Sisodiya, S.M.50
Goldstein, D.B.51
more..
-
31
-
-
66849087673
-
Differentiation of myoclonic seizures in epileptic syndromes: A video-polygraphic study of 26 patients
-
Hirano Y, Oguni H, Funatsuka M, Imai K, Osawa M,. (2009) Differentiation of myoclonic seizures in epileptic syndromes: a video-polygraphic study of 26 patients. Epilepsia 50: 1525-1535.
-
(2009)
Epilepsia
, vol.50
, pp. 1525-1535
-
-
Hirano, Y.1
Oguni, H.2
Funatsuka, M.3
Imai, K.4
Osawa, M.5
-
32
-
-
0022338113
-
An analytic study of epileptic falls
-
Ikeno T, Shigematsu H, Miyakoshi M, Ohba A, Yagi K, Seino M,. (1985) An analytic study of epileptic falls. Epilepsia 26: 612-621.
-
(1985)
Epilepsia
, vol.26
, pp. 612-621
-
-
Ikeno, T.1
Shigematsu, H.2
Miyakoshi, M.3
Ohba, A.4
Yagi, K.5
Seino, M.6
-
33
-
-
79960043388
-
Sturge-Weber syndrome: A favourable surgical outcome in a case with contralateral seizure onset and myoclonic-astatic seizures
-
Jiruska P, Marusic P, Jefferys JG, Krsek P, Cmejla R, Sebronova V, Komarek V,. (2011) Sturge-Weber syndrome: a favourable surgical outcome in a case with contralateral seizure onset and myoclonic-astatic seizures. Epileptic Disord 13: 76-81.
-
(2011)
Epileptic Disord
, vol.13
, pp. 76-81
-
-
Jiruska, P.1
Marusic, P.2
Jefferys, J.G.3
Krsek, P.4
Cmejla, R.5
Sebronova, V.6
Komarek, V.7
-
34
-
-
79955537084
-
The 1000 Genomes Project: Deep genomic sequencing waiting for deep psychiatric phenotyping
-
Joober R,. (2011) The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping. J Psychiatry Neurosci 36: 147-149.
-
(2011)
J Psychiatry Neurosci
, vol.36
, pp. 147-149
-
-
Joober, R.1
-
35
-
-
0032810346
-
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis
-
Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatolas G, Dulac O,. (1999) Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. Epilepsy Res 36: 15-29.
-
(1999)
Epilepsy Res
, vol.36
, pp. 15-29
-
-
Kaminska, A.1
Ickowicz, A.2
Plouin, P.3
Bru, M.F.4
Dellatolas, G.5
Dulac, O.6
-
36
-
-
78649439572
-
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress
-
Kelley SA, Kossoff EH,. (2010) Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol 52: 988-993.
-
(2010)
Dev Med Child Neurol
, vol.52
, pp. 988-993
-
-
Kelley, S.A.1
Kossoff, E.H.2
-
37
-
-
34548462220
-
Current treatment of myoclonic astatic epilepsy: Clinical experience at the Children's Hospital of Philadelphia
-
Kilaru S, Bergqvist AG,. (2007) Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. Epilepsia 48: 1703-1707.
-
(2007)
Epilepsia
, vol.48
, pp. 1703-1707
-
-
Kilaru, S.1
Bergqvist, A.G.2
-
38
-
-
34548688666
-
Altered DNA copy number in patients with different seizure disorder type: By array-CGH
-
Kim HS, Yim SV, Jung KH, Zheng LT, Kim YH, Lee KH, Chung SY, Rha HK,. (2007) Altered DNA copy number in patients with different seizure disorder type: by array-CGH. Brain Dev 29: 639-643.
-
(2007)
Brain Dev
, vol.29
, pp. 639-643
-
-
Kim, H.S.1
Yim, S.V.2
Jung, K.H.3
Zheng, L.T.4
Kim, Y.H.5
Lee, K.H.6
Chung, S.Y.7
Rha, H.K.8
-
39
-
-
0042932513
-
Epileptic seizures and syndromes in twins: The importance of genetic factors
-
Kjeldsen MJ, Corey LA, Christensen K, Friis ML,. (2003) Epileptic seizures and syndromes in twins: the importance of genetic factors. Epilepsy Res 55: 137-146.
-
(2003)
Epilepsy Res
, vol.55
, pp. 137-146
-
-
Kjeldsen, M.J.1
Corey, L.A.2
Christensen, K.3
Friis, M.L.4
-
40
-
-
79959667218
-
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
-
Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J,. (2011) Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 145: 1036-1048.
-
(2011)
Cell
, vol.145
, pp. 1036-1048
-
-
Klassen, T.1
Davis, C.2
Goldman, A.3
Burgess, D.4
Chen, T.5
Wheeler, D.6
McPherson, J.7
Bourquin, T.8
Lewis, L.9
Villasana, D.10
Morgan, M.11
Muzny, D.12
Gibbs, R.13
Noebels, J.14
-
41
-
-
84865023019
-
Myoclonic-astatic epilepsy: Consanguineous families suggest autosomal recessive inheritance
-
Abstract No. 3
-
Kron KL, Afawi Z, Mazarib A, Kivity S, Walid S, Kramer U, Wallace RH, Mulley JC, Neufeld MY, Korczyn AD, Berfovic SF,. (2007) Myoclonic-astatic epilepsy: consanguineous families suggest autosomal recessive inheritance. American Epilepsy Society Annual Meeting, Abstract No. 3: 360. Available at http://www.aesnet.org.
-
(2007)
American Epilepsy Society Annual Meeting
, pp. 360
-
-
Kron, K.L.1
Afawi, Z.2
Mazarib, A.3
Kivity, S.4
Walid, S.5
Kramer, U.6
Wallace, R.H.7
Mulley, J.C.8
Neufeld, M.Y.9
Korczyn, A.D.10
Berfovic, S.F.11
-
42
-
-
0014370671
-
The myoclonic astatic petit mal. Clinical course of small epileptic seizures in childhood. with an introduction by Prof. Dr. Dietrich Janz
-
Kruse R,. (1968) [The myoclonic astatic petit mal. Clinical course of small epileptic seizures in childhood. With an introduction by Prof. Dr. Dietrich Janz]. Monogr Gesamtgeb Neurol Psychiatr 124: 1-126.
-
(1968)
Monogr Gesamtgeb Neurol Psychiatr
, vol.124
, pp. 1-126
-
-
Kruse, R.1
-
43
-
-
0018417483
-
Computerized cranial transverse axial tomography (CTAT) in 145 patients with primary and secondary generalized epilepsies. West syndrome, myoclonic-astatic petit mal, absence epilepsy
-
Lagenstein I, Kuhne D, Sternowsky HJ, Rothe M,. (1979) Computerized cranial transverse axial tomography (CTAT) in 145 patients with primary and secondary generalized epilepsies. West syndrome, myoclonic-astatic petit mal, absence epilepsy. Neuropadiatrie 10: 15-28.
-
(1979)
Neuropadiatrie
, vol.10
, pp. 15-28
-
-
Lagenstein, I.1
Kuhne, D.2
Sternowsky, H.J.3
Rothe, M.4
-
44
-
-
0001539938
-
Clinical correlates of the fast and the slow spike-wave electroencephalogram
-
Lennox WG, Davis JP,. (1950) Clinical correlates of the fast and the slow spike-wave electroencephalogram. Pediatrics 5: 626-644.
-
(1950)
Pediatrics
, vol.5
, pp. 626-644
-
-
Lennox, W.G.1
Davis, J.P.2
-
45
-
-
77956628767
-
Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
-
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE,. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6: e1000962.
-
(2010)
PLoS Genet
, vol.6
-
-
Mefford, H.C.1
Muhle, H.2
Ostertag, P.3
Von Spiczak, S.4
Buysse, K.5
Baker, C.6
Franke, A.7
Malafosse, A.8
Genton, P.9
Thomas, P.10
Gurnett, C.A.11
Schreiber, S.12
Bassuk, A.G.13
Guipponi, M.14
Stephani, U.15
Helbig, I.16
Eichler, E.E.17
-
46
-
-
80051470975
-
Personality traits in patients with juvenile myoclonic epilepsy
-
Moschetta S, Fiore LA, Fuentes D, Gois J, Valente KD,. (2011) Personality traits in patients with juvenile myoclonic epilepsy. Epilepsy Behav 21: 473-477.
-
(2011)
Epilepsy Behav
, vol.21
, pp. 473-477
-
-
Moschetta, S.1
Fiore, L.A.2
Fuentes, D.3
Gois, J.4
Valente, K.D.5
-
47
-
-
80052699025
-
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
-
Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov T, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Scheffer IE, Guerrini R,. (2011) Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 68: 1152-1155.
-
(2011)
Arch Neurol
, vol.68
, pp. 1152-1155
-
-
Mullen, S.A.1
Marini, C.2
Suls, A.3
Mei, D.4
Della Giustina, E.5
Buti, D.6
Arsov, T.7
Damiano, J.8
Lawrence, K.9
De Jonghe, P.10
Berkovic, S.F.11
Scheffer, I.E.12
Guerrini, R.13
-
48
-
-
79952575575
-
Epilepsy and the new cytogenetics
-
Mulley JC, Mefford HC,. (2011) Epilepsy and the new cytogenetics. Epilepsia 52: 423-432.
-
(2011)
Epilepsia
, vol.52
, pp. 423-432
-
-
Mulley, J.C.1
Mefford, H.C.2
-
49
-
-
10744220065
-
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy
-
Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O,. (2003) Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res 56: 127-133.
-
(2003)
Epilepsy Res
, vol.56
, pp. 127-133
-
-
Nabbout, R.1
Kozlovski, A.2
Gennaro, E.3
Bahi-Buisson, N.4
Zara, F.5
Chiron, C.6
Bianchi, A.7
Brice, A.8
Leguern, E.9
Dulac, O.10
-
50
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ,. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
Shendure, J.11
Bamshad, M.J.12
-
51
-
-
0014451749
-
The Lennox-Gastaut syndrome: A severe type of childhood epilepsy
-
Niedermeyer E,. (1969) The Lennox-Gastaut syndrome: a severe type of childhood epilepsy. Dtsch Z Nervenheilkd 195: 263-282.
-
(1969)
Dtsch Z Nervenheilkd
, vol.195
, pp. 263-282
-
-
Niedermeyer, E.1
-
52
-
-
0034772355
-
Myoclonic-astatic epilepsy of early childhood - Clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome
-
Oguni H, Fukuyama Y, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M,. (2001) Myoclonic-astatic epilepsy of early childhood-clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain Dev 23: 757-764.
-
(2001)
Brain Dev
, vol.23
, pp. 757-764
-
-
Oguni, H.1
Fukuyama, Y.2
Tanaka, T.3
Hayashi, K.4
Funatsuka, M.5
Sakauchi, M.6
Shirakawa, S.7
Osawa, M.8
-
53
-
-
0036341965
-
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood
-
Oguni H, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M,. (2002) Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics 33: 122-132.
-
(2002)
Neuropediatrics
, vol.33
, pp. 122-132
-
-
Oguni, H.1
Tanaka, T.2
Hayashi, K.3
Funatsuka, M.4
Sakauchi, M.5
Shirakawa, S.6
Osawa, M.7
-
54
-
-
16544368863
-
Idiopathic myoclonic-astatic epilepsy of early childhood - Nosology based on electrophysiologic and long-term follow-up study of patients
-
Delgado-Escueta A.V. Guerrini E. Medina M.T. Genton P. Bureau M. Dravet C. (Eds). Lippincott Williams & Wilkins, Philadelphia, PA
-
Oguni H, Hayashi K, Imai K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M,. (2005) Idiopathic myoclonic-astatic epilepsy of early childhood-nosology based on electrophysiologic and long-term follow-up study of patients. In, Delgado-Escueta AV, Guerrini E, Medina MT, Genton P, Bureau M, Dravet C, (Eds) Advances in neurology, volume 95 myoclonic epilepsies. Lippincott Williams & Wilkins, Philadelphia, PA, pp. 157-174.
-
(2005)
Advances in Neurology, Volume 95 Myoclonic Epilepsies
, pp. 157-174
-
-
Oguni, H.1
Hayashi, K.2
Imai, K.3
Funatsuka, M.4
Sakauchi, M.5
Shirakawa, S.6
Osawa, M.7
-
55
-
-
0036304363
-
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
-
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K,. (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295: 17-23.
-
(2002)
Biochem Biophys Res Commun
, vol.295
, pp. 17-23
-
-
Ohmori, I.1
Ouchida, M.2
Ohtsuka, Y.3
Oka, E.4
Shimizu, K.5
-
56
-
-
33750591513
-
Diagnostic issues and treatment of cryptogenic or symptomatic generalized epilepsies
-
Ohtsuka Y, Yoshinaga H, Kobayashi K, Ogino T, Oka M, Ito M,. (2006) Diagnostic issues and treatment of cryptogenic or symptomatic generalized epilepsies. Epilepsy Res 70 (Suppl. 1): S132-S140.
-
(2006)
Epilepsy Res
, vol.70
, Issue.SUPPL. 1
-
-
Ohtsuka, Y.1
Yoshinaga, H.2
Kobayashi, K.3
Ogino, T.4
Oka, M.5
Ito, M.6
-
57
-
-
79251557834
-
Accuracy of family history information on epilepsy and other seizure disorders
-
Ottman R, Barker-Cummings C, Leibson CL, Vasoli VM, Hauser WA, Buchhalter JR,. (2011) Accuracy of family history information on epilepsy and other seizure disorders. Neurology 76: 390-396.
-
(2011)
Neurology
, vol.76
, pp. 390-396
-
-
Ottman, R.1
Barker-Cummings, C.2
Leibson, C.L.3
Vasoli, V.M.4
Hauser, W.A.5
Buchhalter, J.R.6
-
58
-
-
32044452016
-
Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy
-
Pal DK, Durner M, Klotz I, Dicker E, Shinnar S, Resor S, Cohen J, Harden C, Moshe SL, Ballaban-Gill K, Bromfield EB, Greenberg DA,. (2006) Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy. Brain Dev 28: 92-98.
-
(2006)
Brain Dev
, vol.28
, pp. 92-98
-
-
Pal, D.K.1
Durner, M.2
Klotz, I.3
Dicker, E.4
Shinnar, S.5
Resor, S.6
Cohen, J.7
Harden, C.8
Moshe, S.L.9
Ballaban-Gill, K.10
Bromfield, E.B.11
Greenberg, D.A.12
-
59
-
-
12344297397
-
Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: Evidence for linkage on chromosomes 7q32 and 16p13
-
Pinto D, Westland B, de Haan GJ, Rudolf G, da Silva BM, Hirsch E, Lindhout D, Trenite DG, Koeleman BP,. (2005) Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum Mol Genet 14: 171-178.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 171-178
-
-
Pinto, D.1
Westland, B.2
De Haan, G.J.3
Rudolf, G.4
Da Silva, B.M.5
Hirsch, E.6
Lindhout, D.7
Trenite, D.G.8
Koeleman, B.P.9
-
61
-
-
80052584397
-
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
-
Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM,. (2011) Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 109: 680-686.
-
(2011)
Circ Res
, vol.109
, pp. 680-686
-
-
Regalado, E.S.1
Guo, D.C.2
Villamizar, C.3
Avidan, N.4
Gilchrist, D.5
McGillivray, B.6
Clarke, L.7
Bernier, F.8
Santos-Cortez, R.L.9
Leal, S.M.10
Bertoli-Avella, A.M.11
Shendure, J.12
Rieder, M.J.13
Nickerson, D.A.14
Milewicz, D.M.15
-
62
-
-
0003426793
-
-
John Libbey, London.
-
Roger J, Bureau M, Dravet CH, Dreifuss FE, Perret A, Wolf P,. (1992) Epileptic syndromes in infancy, childhood and adolescence. John Libbey, London.
-
(1992)
Epileptic Syndromes in Infancy, Childhood and Adolescence
-
-
Roger, J.1
Bureau, M.2
Dravet, C.H.3
Dreifuss, F.E.4
Perret, A.5
Wolf, P.6
-
63
-
-
0023779963
-
Genetic determination of the human EEG. Survey of recent results on twins reared together and apart
-
Stassen HH, Lykken DT, Propping P, Bomben G,. (1988) Genetic determination of the human EEG. Survey of recent results on twins reared together and apart. Hum Genet 80: 165-176.
-
(1988)
Hum Genet
, vol.80
, pp. 165-176
-
-
Stassen, H.H.1
Lykken, D.T.2
Propping, P.3
Bomben, G.4
-
64
-
-
33750596851
-
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome
-
Stephani U,. (2006) The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. Epilepsia 47 (Suppl. 2): 53-55.
-
(2006)
Epilepsia
, vol.47
, Issue.SUPPL. 2
, pp. 53-55
-
-
Stephani, U.1
-
65
-
-
69249246953
-
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
-
Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, Dorfman R, Bali B, Wirrell E, Kugler SL, Mandelbaum DE, Wolf SM, McGoldrick P, Hardison H, Novotny EJ, Ju J, Greenberg DA, Russo JJ, Pal DK,. (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet 17: 1171-1181.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1171-1181
-
-
Strug, L.J.1
Clarke, T.2
Chiang, T.3
Chien, M.4
Baskurt, Z.5
Li, W.6
Dorfman, R.7
Bali, B.8
Wirrell, E.9
Kugler, S.L.10
Mandelbaum, D.E.11
Wolf, S.M.12
McGoldrick, P.13
Hardison, H.14
Novotny, E.J.15
Ju, J.16
Greenberg, D.A.17
Russo, J.J.18
Pal, D.K.19
-
66
-
-
20444384725
-
Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy
-
Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresch M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nurnberg P, Schmitz B, Stephani U, Sander T,. (2005) Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann Neurol 57: 866-873.
-
(2005)
Ann Neurol
, vol.57
, pp. 866-873
-
-
Tauer, U.1
Lorenz, S.2
Lenzen, K.P.3
Heils, A.4
Muhle, H.5
Gresch, M.6
Neubauer, B.A.7
Waltz, S.8
Rudolf, G.9
Mattheisen, M.10
Strauch, K.11
Nurnberg, P.12
Schmitz, B.13
Stephani, U.14
Sander, T.15
-
67
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC,. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 19: 366-370.
-
(1998)
Nat Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George, Jr.A.L.5
Phillips, H.A.6
Saar, K.7
Reis, A.8
Johnson, E.W.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
-
68
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF,. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28: 49-52.
-
(2001)
Nat Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, D.N.5
Panchal, R.G.6
Williams, D.A.7
Sutherland, G.R.8
Mulley, J.C.9
Scheffer, I.E.10
Berkovic, S.F.11
-
70
-
-
79953268292
-
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene
-
Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A,. (2011) One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neurosci Lett 494: 180-183.
-
(2011)
Neurosci Lett
, vol.494
, pp. 180-183
-
-
Yordanova, I.1
Todorov, T.2
Dimova, P.3
Hristova, D.4
Tincheva, R.5
Litvinenko, I.6
Yotovska, O.7
Kremensky, I.8
Todorova, A.9
|