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Volumn 96, Issue 11, 2011, Pages 1020-1025

The tuberous sclerosis 2000 study: Presentation initial assessments and implications for diagnosis and management

(38)  Yates, John R W a,b   MacLean, Cathy a   Higgins, J Nicholas P b   Humphrey, Ayla a   Le Maréchal, Kate c   Clifford, Michelle c   Carcani Rathwell, Iris c   Sampson, Julian R d   Bolton, Patrick F c   Attard, V e   Clarke, A e   Elmslie, F V e   Saggar, A K e   Baines, D f   Kerr, B A f   Brayne, C g   Connolly, C c   Lydon, A c   Srivastava, C c   Cook, J A h   more..


Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT;

EID: 80054773182     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2011.211995     Document Type: Article
Times cited : (114)

References (35)
  • 1
    • 33749068243 scopus 로고    scopus 로고
    • Tuberous sclerosis
    • DOI 10.1038/sj.ejhg.5201625, PII 5201625
    • Yates JR. Tuberous sclerosis. Eur J Hum Genet 2006;14:1065-73. (Pubitemid 44463964)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.10 , pp. 1065-1073
    • Yates, J.R.W.1
  • 3
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8. (Pubitemid 29035481)
    • (1998) Journal of Child Neurology , vol.13 , Issue.12 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 4
    • 0032989136 scopus 로고    scopus 로고
    • Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation
    • Roach ES, DiMario FJ, Kandt RS, et al. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999;14:401-7. (Pubitemid 29321101)
    • (1999) Journal of Child Neurology , vol.14 , Issue.6 , pp. 401-407
    • Roach, E.S.1    DiMario, F.J.2    Kandt, R.S.3    Northrup, H.4
  • 12
    • 60549105592 scopus 로고    scopus 로고
    • Role of mutational analysis in diagnosis of tuberous sclerosis complex
    • Vail EA, Rakowski SK, Numis AL, et al. Role of mutational analysis in diagnosis of tuberous sclerosis complex. Clin Genet 2009;75:282-5.
    • (2009) Clin Genet , vol.75 , pp. 282-285
    • Vail, E.A.1    Rakowski, S.K.2    Numis, A.L.3
  • 13
    • 33646710089 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Clinical features, diagnosis, and prevalence within Northern Ireland
    • DOI 10.1017/S0012162206001058, PII S0012162206001058
    • Devlin LA, Shepherd CH, Crawford H, et al. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol 2006;48:495-9. (Pubitemid 43740913)
    • (2006) Developmental Medicine and Child Neurology , vol.48 , Issue.6 , pp. 495-499
    • Devlin, L.A.1    Sheperd, C.H.2    Crawford, H.3    Morrison, P.J.4
  • 14
    • 78650774176 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Diagnostic challenges, presenting symptoms, and commonly missed signs
    • Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics 2011;127:e117-25.
    • (2011) Pediatrics , vol.127
    • Staley, B.A.1    Vail, E.A.2    Thiele, E.A.3
  • 15
    • 39049083046 scopus 로고    scopus 로고
    • Clinical presentation and diagnosis of tuberous sclerosis complex in infancy
    • DOI 10.1177/0883073807309250
    • Datta AN, Hahn CD, Sahin M. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol 2008;23:268-73. (Pubitemid 351247618)
    • (2008) Journal of Child Neurology , vol.23 , Issue.3 , pp. 268-273
    • Datta, A.N.1    Hahn, C.D.2    Sahin, M.3
  • 16
    • 33749481462 scopus 로고    scopus 로고
    • Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis? [2]
    • DOI 10.1002/pd.1506
    • Józwiak S, Kotulska K. Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis? Prenat Diagn 2006;26:867-9. (Pubitemid 44519665)
    • (2006) Prenatal Diagnosis , vol.26 , Issue.9 , pp. 867-869
    • Jozwiak, S.1    Kotulska, K.2
  • 17
    • 77953610373 scopus 로고    scopus 로고
    • Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes
    • Degueldre SC, Chockalingam P, Mivelaz Y, et al. Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes. Cardiol Young 2010;20:18-24.
    • (2010) Cardiol Young , vol.20 , pp. 18-24
    • Degueldre, S.C.1    Chockalingam, P.2    Mivelaz, Y.3
  • 18
    • 0033756389 scopus 로고    scopus 로고
    • Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients
    • Józwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 2000;15:652-9.
    • (2000) J Child Neurol , vol.15 , pp. 652-659
    • Józwiak, S.1    Schwartz, R.A.2    Janniger, C.K.3
  • 19
    • 12244298162 scopus 로고    scopus 로고
    • Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
    • DOI 10.1017/S0033291702007092
    • Joinson C, O'Callaghan FJ, Osborne JP, et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003;33:335-44. (Pubitemid 36221465)
    • (2003) Psychological Medicine , vol.33 , Issue.2 , pp. 335-344
    • Joinson, C.1    O'Callaghan, F.J.2    Osborne, J.P.3    Martyn, C.4    Harris, T.5    Bolton, P.F.6
  • 20
    • 0032424306 scopus 로고    scopus 로고
    • Skin lesions in children with tuberous sclerosis complex: Their prevalence, natural course, and diagnostic significance
    • DOI 10.1046/j.1365-4362.1998.00495.x
    • Józwiak S, Schwartz RA, Janniger CK, et al. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998;37:911-17. (Pubitemid 29012780)
    • (1998) International Journal of Dermatology , vol.37 , Issue.12 , pp. 911-917
    • Jozwiak, S.1    Schwartz, R.A.2    Janniger, C.K.3    Michalowicz, R.4    Chmielik, J.5
  • 21
    • 0035061117 scopus 로고    scopus 로고
    • Ophthalmic manifestations of tuberous sclerosis: A population based study
    • DOI 10.1136/bjo.85.4.420
    • Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 2001;85:420-3. (Pubitemid 32275621)
    • (2001) British Journal of Ophthalmology , vol.85 , Issue.4 , pp. 420-423
    • Rowley, S.A.1    O'Callaghan, F.J.2    Osborne, J.P.3
  • 22
    • 0021886390 scopus 로고
    • Echocardiographic incidence of cardiac rhabdomyoma in tuberous sclerosis
    • DOI 10.1016/0002-9149(85)90508-9
    • Bass JL, Breningstall GN, Swaiman KF. Echocardiographic incidence of cardiac rhabdomyoma in tuberous sclerosis. Am J Cardiol 1985;55:1379-82. (Pubitemid 15035206)
    • (1985) American Journal of Cardiology , vol.55 , Issue.11 , pp. 1379-1382
    • Bass, J.L.1    Breningstall, G.N.2    Swaiman, K.F.3
  • 23
    • 0024578705 scopus 로고
    • Cardiac rhabdomyomata in tuberous sclerosis: Their course and diagnostic value
    • Smith HC, Watson GH, Patel RG, et al. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch Dis Child 1989;64:196-200. (Pubitemid 19053747)
    • (1989) Archives of Disease in Childhood , vol.64 , Issue.2 , pp. 196-200
    • Smith, H.C.1    Watson, G.H.2    Patel, R.G.3    Super, M.4
  • 26
    • 33846562070 scopus 로고    scopus 로고
    • Neonatal Subependymal Giant Cell Astrocytoma: New Case and Review of Literature
    • DOI 10.1016/j.pediatrneurol.2006.08.009, PII S0887899406004917
    • Raju GP, Urion DK, Sahin M. Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol 2007;36:128-31. (Pubitemid 46176544)
    • (2007) Pediatric Neurology , vol.36 , Issue.2 , pp. 128-131
    • Raju, G.P.1    Urion, D.K.2    Sahin, M.3
  • 27
    • 0031897224 scopus 로고    scopus 로고
    • Poor mental development in patients with tuberous sclerosis complex: Clinical risk factors
    • DOI 10.1001/archneur.55.3.379
    • Jozwiak S, Goodman M, Lamm SH. Poor mental development in patients with tuberous sclerosis complex: clinical risk factors. Arch Neurol 1998;55:379-84. (Pubitemid 28146203)
    • (1998) Archives of Neurology , vol.55 , Issue.3 , pp. 379-384
    • Jozwiak, S.1    Goodman, M.2    Lamm, S.H.3
  • 28
    • 2642525301 scopus 로고    scopus 로고
    • The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
    • O'Callaghan FJ, Harris T, Joinson C, et al. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530-3.
    • (2004) Arch Dis Child , vol.89 , pp. 530-533
    • O'Callaghan, F.J.1    Harris, T.2    Joinson, C.3
  • 29
    • 22544488406 scopus 로고    scopus 로고
    • Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
    • DOI 10.1212/01.wnl.0000168908.78118.99
    • Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005;65:235-8. (Pubitemid 41022367)
    • (2005) Neurology , vol.65 , Issue.2 , pp. 235-238
    • Goh, S.1    Kwiatkowski, D.J.2    Dorer, D.J.3    Thiele, E.A.4
  • 30
    • 33846083243 scopus 로고    scopus 로고
    • Cognitive prognosis of patients with tuberous sclerosis complex
    • DOI 10.1212/01.wnl.0000250330.44291.54, PII 0000611420070102000018
    • Winterkorn EB, Pulsifer MB, Thiele EA. Cognitive prognosis of patients with tuberous sclerosis complex. Neurology 2007;68:62-4. (Pubitemid 46058555)
    • (2007) Neurology , vol.68 , Issue.1 , pp. 62-64
    • Winterkorn, E.B.1    Pulsifer, M.B.2    Thiele, E.A.3
  • 32
    • 78651341863 scopus 로고    scopus 로고
    • Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex
    • Kaczorowska M, Jurkiewicz E, Domanska-Pakiela D, et al. Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia 2011;52:22-7.
    • (2011) Epilepsia , vol.52 , pp. 22-27
    • Kaczorowska, M.1    Jurkiewicz, E.2    Domanska-Pakiela, D.3
  • 33
    • 34547837479 scopus 로고    scopus 로고
    • Treatment before seizures: New indications for antiepileptic therapy in children with tuberous sclerosis complex
    • author reply 1632-4
    • Józwiak S, Domanska-Pakiela D, Kotulska K, et al. Treatment before seizures: new indications for antiepileptic therapy in children with tuberous sclerosis complex. Epilepsia 2007;48:1632; author reply 1632-4.
    • (2007) Epilepsia , vol.48 , pp. 1632
    • Józwiak, S.1    Domanska-Pakiela, D.2    Kotulska, K.3
  • 34
    • 33745231169 scopus 로고    scopus 로고
    • Autistic regression associated with seizure onset in an infant with tuberous sclerosis
    • Humphrey A, Neville BG, Clarke A, et al. Autistic regression associated with seizure onset in an infant with tuberous sclerosis. Dev Med Child Neurol 2006;48:609-11.
    • (2006) Dev Med Child Neurol , vol.48 , pp. 609-611
    • Humphrey, A.1    Neville, B.G.2    Clarke, A.3
  • 35
    • 75349112539 scopus 로고    scopus 로고
    • Early control of seizures improves long-term outcome in children with tuberous sclerosis complex
    • Bombardieri R, Pinci M, Moavero R, et al. Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. Eur J Paediatr Neurol 2010;14:146-9.
    • (2010) Eur J Paediatr Neurol , vol.14 , pp. 146-149
    • Bombardieri, R.1    Pinci, M.2    Moavero, R.3


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