-
4
-
-
77954529084
-
The natural history of epilepsy in tuberous sclerosis
-
C.J. Chu-Shore, P. Major, S. Composano, D. Muzykewicz, and E.A. Thiele The natural history of epilepsy in tuberous sclerosis Epilepsia 51 2010 1236 1241
-
(2010)
Epilepsia
, vol.51
, pp. 1236-1241
-
-
Chu-Shore, C.J.1
Major, P.2
Composano, S.3
Muzykewicz, D.4
Thiele, E.A.5
-
5
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
DOI 10.1126/science.277.5327.805
-
M.V. Van Slegtenhorst, R.D. Hoogt, and C. Hermans et al. Identification of the tuberous sclerosis gene tsc1 on chromosome 9q34 Science 277 1997 805 808 (Pubitemid 27366729)
-
(1997)
Science
, vol.277
, Issue.5327
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
Van Den Ouweland, A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Sampson, J.R.25
Reeve, M.P.26
Richardson, P.27
Wilmer, F.28
Munro, C.29
Hawkins, T.L.30
Sepp, T.31
Ali, J.B.M.32
Ward, S.33
Green, A.J.34
Yates, J.R.W.35
Kwiatkowska, J.36
Henske, E.P.37
Short, M.P.38
Haines, J.H.39
Jozwiak, S.40
Kwiatkowski, D.J.41
more..
-
6
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
The European Chromosome 16 Tuberous Sclerosis Consortium
-
The European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16 Cell 75 1993 1305 1315
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
7
-
-
33644539200
-
Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: Case report with molecular confirmation
-
S. Jóźwiak, D. Domańska-Pakieła, D.J. Kwiatkowski, and K. Kotulska Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation J Child Neurol 20 2005 988 989
-
(2005)
J Child Neurol
, vol.20
, pp. 988-989
-
-
Jóźwiak, S.1
Domańska-Pakieła, D.2
Kwiatkowski, D.J.3
Kotulska, K.4
-
8
-
-
33749481462
-
Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis? [2]
-
DOI 10.1002/pd.1506
-
S. Jóźwiak, and K. Kotulska Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis? Prenat Diagn 26 2006 867 869 (Pubitemid 44519665)
-
(2006)
Prenatal Diagnosis
, vol.26
, Issue.9
, pp. 867-869
-
-
Jozwiak, S.1
Kotulska, K.2
-
9
-
-
34447272449
-
Tuberous sclerosis complex: Advances in diagnosis,genetics, and management
-
DOI 10.1016/j.jaad.2007.05.004, PII S0190962207008420
-
R.A. Schwartz, G. Fernandez, K. Kotulska, and S. Jozwiak Tuberous sclerosis complex: advances in diagnosis, genetics and management J Am Acad Dermatol 57 2 2007 189 202 (Pubitemid 47048880)
-
(2007)
Journal of the American Academy of Dermatology
, vol.57
, Issue.2
, pp. 189-202
-
-
Schwartz, R.A.1
Fernandez, G.2
Kotulska, K.3
Jozwiak, S.4
-
10
-
-
34247164656
-
Tuberous sclerosis complex and epilepsy: Recent developments and future challenges
-
DOI 10.1111/j.1528-1167.2007.01035.x
-
G.L. Holmes, C.E. Stafstrom Tuberous Sclerosis Study Group Tuberous sclerosis complex and epilepsy: recent developments and future challenges Epilepsia 4 2007 617 630 (Pubitemid 46587608)
-
(2007)
Epilepsia
, vol.48
, Issue.4
, pp. 617-630
-
-
Holmes, G.L.1
Stafstrom, C.E.2
Baraban, S.C.3
Bertram, E.4
Bolton, P.5
Brooks-Kayal, A.6
Chugani, H.T.7
Coulter, D.8
Crino, P.9
Delanerolle, N.C.10
Devinsky, O.11
Jacobs, M.12
Jensen, F.E.13
Kapur, J.14
Khazipov, R.15
Kirchstein, T.16
Lonsdale, J.17
Mathern, G.18
Riviello, J.19
Sahin, M.20
Sands, T.21
Sankar, R.22
Schauwecker, P.23
Staley, K.24
Talos, D.25
Thiele, E.26
Taylor, N.27
Dunigan, C.28
Whittemore, V.H.29
more..
-
11
-
-
0034783142
-
Infantile spasms in tuberous sclerosis complex
-
DOI 10.1016/S0387-7604(01)00300-X, PII S038776040100300X
-
P. Curatolo, S. Seri, M. Verdecchia, and R. Bombardieri Infantile spasms in tuberous sclerosis complex Brain Dev 23 2001 502 507 (Pubitemid 32999116)
-
(2001)
Brain and Development
, vol.23
, Issue.7
, pp. 502-507
-
-
Curatolo, P.1
Seri, S.2
Verdecchia, M.3
Bombardieri, R.4
-
12
-
-
0033756389
-
Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients
-
S. Józwiak, R.A. Schwartz, C.K. Janniger, and J. Bielicka-Cymerman Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients J Child Neurol 15 2000 652 659
-
(2000)
J Child Neurol
, vol.15
, pp. 652-659
-
-
Józwiak, S.1
Schwartz, R.A.2
Janniger, C.K.3
Bielicka-Cymerman, J.4
-
13
-
-
0031897224
-
Poor mental development in patients with tuberous sclerosis complex: Clinical risk factors
-
DOI 10.1001/archneur.55.3.379
-
S. Jóźwiak, M. Goodman, and S.H. Lamm Poor mental development in patients with tuberous sclerosis complex: clinical risk factors Arch Neurol 55 1998 379 384 (Pubitemid 28146203)
-
(1998)
Archives of Neurology
, vol.55
, Issue.3
, pp. 379-384
-
-
Jozwiak, S.1
Goodman, M.2
Lamm, S.H.3
-
14
-
-
33846083243
-
Cognitive prognosis of patients with tuberous sclerosis complex
-
DOI 10.1212/01.wnl.0000250330.44291.54, PII 0000611420070102000018
-
E.B. Winterkorn, M.B. Pulsifer, and E.A. Thiele Cognitive prognosis of patients with tuberous sclerosis complex Neurology 68 2007 62 64 (Pubitemid 46058555)
-
(2007)
Neurology
, vol.68
, Issue.1
, pp. 62-64
-
-
Winterkorn, E.B.1
Pulsifer, M.B.2
Thiele, E.A.3
-
15
-
-
41149159158
-
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition
-
DOI 10.1212/01.wnl.0000280579.04974.c0
-
F.E. Jansen, K.L. Vincken, and A. Algra et al. Cognitive impairment in tuberous sclerosis complex is a multifactorial condition Neurology 70 2008 916 923 (Pubitemid 351430755)
-
(2008)
Neurology
, vol.70
, Issue.12
, pp. 916-923
-
-
Jansen, F.E.1
Vincken, K.L.2
Algra, A.3
Anbeek, P.4
Braams, O.5
Nellist, M.6
Zonnenberg, B.A.7
Jennekens-Schinkel, A.8
Van Den Ouweland, A.9
Halley, D.10
Van Huffelen, A.C.11
Van Nieuwenhuizen, O.12
-
16
-
-
58849144668
-
Infantile spasms in tuberous sclerosis complex: Prognostic utility of EEG
-
D.A. Muzykewicz, D.J. Costello, E.F. Halpern, and E.A. Thiele Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG Epilepsia 50 2009 290 296
-
(2009)
Epilepsia
, vol.50
, pp. 290-296
-
-
Muzykewicz, D.A.1
Costello, D.J.2
Halpern, E.F.3
Thiele, E.A.4
-
17
-
-
75349112539
-
Early control of seizures improves long-term outcome in children with tuberous sclerosis complex
-
R. Bombardieri, M. Pinci, R. Moavero, C. Cerminara, and P. Curatolo Early control of seizures improves long-term outcome in children with tuberous sclerosis complex Eur J Paediatr Neurol 14 2010 146 149
-
(2010)
Eur J Paediatr Neurol
, vol.14
, pp. 146-149
-
-
Bombardieri, R.1
Pinci, M.2
Moavero, R.3
Cerminara, C.4
Curatolo, P.5
-
18
-
-
80053003178
-
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
-
S. Jóźwiak, K. Kotulska, and D. Domańska- Pakieła et al. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex Eur J Paediatr Neurol 15 2011 424 431
-
(2011)
Eur J Paediatr Neurol
, vol.15
, pp. 424-431
-
-
Jóźwiak, S.1
Kotulska, K.2
Domańska-Pakieła, D.3
-
19
-
-
78651341863
-
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex
-
M. Kaczorowska, E. Jurkiewicz, and D. Domańska-Pakieła et al. Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex Epilepsia 52 2011 22 27
-
(2011)
Epilepsia
, vol.52
, pp. 22-27
-
-
Kaczorowska, M.1
Jurkiewicz, E.2
Domańska-Pakieła, D.3
-
20
-
-
20044375557
-
Intractable seizures in tuberous sclerosis complex: From molecular pathogenesis to the rationale for treatment
-
P. Curatolo, R. Bombardieri, M. Verdecchia, and S. Seri Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment J Child Neurol 20 2005 318 325 (Pubitemid 40766990)
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.4
, pp. 318-325
-
-
Curatolo, P.1
Bombardieri, R.2
Verdecchia, M.3
Seri, S.4
-
21
-
-
77954525725
-
Prevalence of epileptiform discharges in healthy children-new data from a prospective study using digital EEG
-
P. Borusiak, M. Zilbauer, and A.C. Jenke Prevalence of epileptiform discharges in healthy children-new data from a prospective study using digital EEG Epilepsia 51 2010 1185 1188
-
(2010)
Epilepsia
, vol.51
, pp. 1185-1188
-
-
Borusiak, P.1
Zilbauer, M.2
Jenke, A.C.3
-
22
-
-
77749239704
-
EEG spike activity precedes epilepsy after kainite -induced status epilepticus
-
A. White, P.A. Williams, and J.L. Hellier et al. EEG spike activity precedes epilepsy after kainite -induced status epilepticus Epilepsia 51 2010 371 383
-
(2010)
Epilepsia
, vol.51
, pp. 371-383
-
-
White, A.1
Williams, P.A.2
Hellier, J.L.3
-
23
-
-
0345268798
-
The predictive value of electroencephalogram during early infancy for later development of west syndrome in infants with cystic periventricular leukomalacia
-
DOI 10.1046/j.1528-1157.2003.29202.x
-
M. Suzuki, A. Okumura, and K. Watanabe et al. The predictive value of electroencephalogram during early infancy for later development of West syndrome in infants with cystic periventricular leukomalacia Epilepsia 44 2003 443 446 (Pubitemid 36343775)
-
(2003)
Epilepsia
, vol.44
, Issue.3
, pp. 443-446
-
-
Suzuki, M.1
Okumura, A.2
Watanabe, K.3
Negoro, T.4
Hayakawa, F.5
Kato, T.6
Itomi, K.7
Kubota, T.8
Maruyama, K.9
-
24
-
-
0034782755
-
Clinico-electrical evolution in pre-hypsarrhythmic stage: Towards prediction and prevention of West syndrome
-
DOI 10.1016/S0387-7604(01)00291-1, PII S0387760401002911
-
A. Okumura, and K. Watanabe Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome Brain Dev 23 2001 482 487 (Pubitemid 32999113)
-
(2001)
Brain and Development
, vol.23
, Issue.7
, pp. 482-487
-
-
Okumura, A.1
Watanabe, K.2
-
25
-
-
55349092324
-
Electroencephalographic evolution of hypsarrhythmia: Toward an early treatment option
-
H. Philippi, G. Wolhrab, and U. Bettendorf et al. Electroencephalographic evolution of hypsarrhythmia: toward an early treatment option Epilepsia 49 2008 1859 1864
-
(2008)
Epilepsia
, vol.49
, pp. 1859-1864
-
-
Philippi, H.1
Wolhrab, G.2
Bettendorf, U.3
-
26
-
-
80054820904
-
Treatment of infantile spasms: Emerging insights from clinical and basic science perspectives
-
C.E. Stafstrom, B.G.W. Arnason, and T.Z. Baram et al. Treatment of infantile spasms: emerging insights from clinical and basic science perspectives J Child Neurol 26 2011 1411 1421
-
(2011)
J Child Neurol
, vol.26
, pp. 1411-1421
-
-
Stafstrom, C.E.1
Arnason, B.G.W.2
Baram, T.Z.3
-
27
-
-
0019278329
-
The role of perinatal brain injury in the genesis of childhood epilepsy
-
K. Watanabe, K. Hara, S. Miyazaki, and S. Hakamada The role of perinatal brain injury in the genesis of childhood epilepsy Folia Psychiatr Neurol Jpn 34 1980 227 232 (Pubitemid 11162936)
-
(1980)
Folia Psychiatrica et Neurologica Japonica
, vol.34
, Issue.3
, pp. 227-232
-
-
Watanabe, K.1
Hara, K.2
Miyazaki, S.3
Hakamada, S.4
-
28
-
-
0023630361
-
Identification of infants at risk for infantile spasms by neonatal polygraphy
-
B. Walther, T. Schmitt, and B. Reitter Identification of infants at risk for infantile spasms by neonatal polygraphy Brain Dev 9 4 1987 377 390 (Pubitemid 18032025)
-
(1987)
Brain and Development
, vol.9
, Issue.4
, pp. 377-390
-
-
Walther, B.1
Schmitt, T.2
Reitter, B.3
-
30
-
-
84867101893
-
Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations
-
P. Curatolo, S. Jóźwiak, and R. Nabbout Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations Eur J Paediatr Neurol 16 6 2012 582 586
-
(2012)
Eur J Paediatr Neurol
, vol.16
, Issue.6
, pp. 582-586
-
-
Curatolo, P.1
Jóźwiak, S.2
Nabbout, R.3
|