Literature DB >> 16818173

The diverse clinical manifestations of tuberous sclerosis complex: a review.

Tena Rosser1, Ashok Panigrahy, William McClintock.   

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous disorder. TSC results in hamartomatous lesions primarily involving the skin, central nervous system, kidneys, eyes, heart, and lungs. The clinical findings and severity of TSC are highly variable. Recent advances in our understanding of the complexities of the TSC1 and TSC2 genes are making genotype-phenotype correlations possible. While managing seizures, cognitive dysfunction, and behavioral abnormalities are the primary responsibility of the neurologist, familiarity with all aspects of this disease helps provide better comprehensive care for affected individuals.

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Year:  2006        PMID: 16818173     DOI: 10.1016/j.spen.2006.01.008

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  20 in total

1.  Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex.

Authors:  Jeng-Dau Tsai; Chang-Ching Wei; Shan-Ming Chen; Ko-Huang Lue; Ji-Nan Sheu
Journal:  Int Urol Nephrol       Date:  2014-03-30       Impact factor: 2.370

2.  A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.

Authors:  Hae-Jin Hu; Yeun-Jun Chung; Han-Wook Yoo; Young-Hoon Kim; Tae-Hoon Eom
Journal:  Neurol Sci       Date:  2014-04-26       Impact factor: 3.307

3.  Liver involvement in tuberous sclerosis.

Authors:  Ines Kechaou; Eya Cherif; Lamia Ben Hassine; Narjess Khalfallah
Journal:  BMJ Case Rep       Date:  2014-03-26

4.  Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle.

Authors:  Jing Zhou; Gayatri Shrikhande; Jing Xu; Renée M McKay; Dennis K Burns; Jane E Johnson; Luis F Parada
Journal:  Genes Dev       Date:  2011-08-01       Impact factor: 11.361

Review 5.  Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes.

Authors:  Maya B Lodish; Constantine A Stratakis
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-06       Impact factor: 4.690

6.  Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.

Authors:  Mehmet Canpolat; Huseyin Per; Hakan Gumus; Ali Yikilmaz; Ekrem Unal; Turkan Patiroglu; Levent Cinar; Ali Kurtsoy; Sefer Kumandas
Journal:  Childs Nerv Syst       Date:  2013-06-07       Impact factor: 1.475

7.  Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

Authors:  Robert P Carson; Dominic L Van Nielen; Peggy A Winzenburger; Kevin C Ess
Journal:  Neurobiol Dis       Date:  2011-08-26       Impact factor: 5.996

Review 8.  Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.

Authors:  Constantine A Stratakis
Journal:  Rev Endocr Metab Disord       Date:  2016-09       Impact factor: 6.514

9.  Altered Structural Brain Networks in Tuberous Sclerosis Complex.

Authors:  Kiho Im; Banu Ahtam; Daniel Haehn; Jurriaan M Peters; Simon K Warfield; Mustafa Sahin; P Ellen Grant
Journal:  Cereb Cortex       Date:  2015-03-05       Impact factor: 5.357

Review 10.  The pathogenesis and imaging of the tuberous sclerosis complex.

Authors:  Henry J Baskin
Journal:  Pediatr Radiol       Date:  2008-04-15
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