Literature DB >> 11898483

Neurologic manifestations of tuberous sclerosis complex.

William M McClintock1.   

Abstract

Tuberous sclerosis complex (TSC) is a multiorgan disorder that primarily affects the brain, skin, and kidneys. Recent advances have elucidated the genetics of this complex, which has helped lead to an increased understanding of the basic neurobiology of this disorder. There is both phenotypic and geneotypic heterogeneity. The treatment of epilepsy remains a major challenge in these patients, and there is an increasing role for epileptic surgery. Many patients with TSC continue to have intractable seizures. Early identification to ensure proper monitoring and genetic counseling continue to be important clinically. The neurologist must be aware of other organ involvement, particularly the kidneys, and the lungs in female patients, to ensure appropriate monitoring for complications. It is also important to be aware of the marked variability of expression in all the clinical features of TSC.

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Year:  2002        PMID: 11898483     DOI: 10.1007/s11910-002-0025-2

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  44 in total

1.  Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex.

Authors:  E Asano; D C Chugani; O Muzik; C Shen; C Juhász; J Janisse; J Ager; A Canady; J R Shah; A K Shah; C Watson; H T Chugani
Journal:  Neurology       Date:  2000-05-23       Impact factor: 9.910

2.  Germ-line mosaicism in tuberous sclerosis: how common?

Authors:  V M Rose; K S Au; G Pollom; E S Roach; H R Prashner; H Northrup
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Authors:  S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

4.  Randomized trial of vigabatrin in patients with infantile spasms.

Authors:  R D Elterman; W D Shields; K A Mansfield; J Nakagawa
Journal:  Neurology       Date:  2001-10-23       Impact factor: 9.910

5.  West syndrome in tuberous sclerosis complex.

Authors:  A M Husain; C M Foley; A Legido; D A Chandler; D K Miles; W D Grover
Journal:  Pediatr Neurol       Date:  2000-09       Impact factor: 3.372

6.  A role of the tuberous sclerosis gene-2 product during neuronal differentiation.

Authors:  T Soucek; G Hölzl; G Bernaschek; M Hengstschläger
Journal:  Oncogene       Date:  1998-04-30       Impact factor: 9.867

7.  Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

Authors:  H C Smith; G H Watson; R G Patel; M Super
Journal:  Arch Dis Child       Date:  1989-02       Impact factor: 3.791

8.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Authors: 
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

9.  Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region.

Authors:  F Jin; R Wienecke; G H Xiao; J C Maize; J E DeClue; R S Yeung
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-20       Impact factor: 11.205

10.  Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients.

Authors:  M M Guerreiro; F Andermann; E Andermann; A Palmini; P Hwang; H J Hoffman; H Otsubo; A Bastos; F Dubeau; G J Snipes; A Olivier; T Rasmussen
Journal:  Neurology       Date:  1998-11       Impact factor: 9.910

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  2 in total

1.  Temporal and mosaic Tsc1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function, and behavior.

Authors:  Elizabeth A Normand; Shane R Crandall; Catherine A Thorn; Emily M Murphy; Bettina Voelcker; Catherine Browning; Jason T Machan; Christopher I Moore; Barry W Connors; Mark Zervas
Journal:  Neuron       Date:  2013-05-09       Impact factor: 17.173

2.  Tuberous sclerosis complex: everything old is new again.

Authors:  Kevin C Ess
Journal:  J Neurodev Disord       Date:  2009-05-06       Impact factor: 4.025

  2 in total

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