Literature DB >> 11993952

Tuberous sclerosis complex: a review of neurological aspects.

Paolo Curatolo1, Magda Verdecchia, Roberta Bombardieri.   

Abstract

Tuberous sclerosis complex is characterized by hamartomatous lesions involving skin, brain, kidneys, eyes and heart. Pathologically, tuberous sclerosis is a disorder of cell migration, proliferation and differentiation. Cell lineage and cell migration disorders in the developing cortex of tuberous sclerosis complex patients might produce very different neurological phenotypes including epilepsy, cognitive impairment and autism. Cortical tubers constitute the hallmark of the disease and are pathognomonic of cerebral tuberous sclerosis. Epilepsy is the most common neurological feature, occurring in 96% of patients. Seizures often begin in the first months of life and are frequently severe and intractable. The treatment of seizures has recently benefited from the advent of the new anti-epileptic drugs. Selected drug-resistant patients with tuberous sclerosis complex could be considered for surgical treatment. Clear localization of the most active epileptogenic focus and the zone of the cortical abnormality may lead to tuberectomy and improved seizure control in selective drug-resistant patients. The finding of multiple areas of cerebral involvement should not automatically preclude epilepsy surgery in a child with intractable seizures and a well defined seizure origin.

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Year:  2002        PMID: 11993952     DOI: 10.1053/ejpn.2001.0538

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  40 in total

1.  Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.

Authors:  Avanita S Prabowo; Jasper J Anink; Martin Lammens; Mark Nellist; Ans M W van den Ouweland; Homa Adle-Biassette; Harvey B Sarnat; Laura Flores-Sarnat; Peter B Crino; Eleonora Aronica
Journal:  Brain Pathol       Date:  2012-08-30       Impact factor: 6.508

Review 2.  Hereditary genodermatoses with cancer predisposition.

Authors:  Meg R Gerstenblith; Alisa M Goldstein; Margaret A Tucker
Journal:  Hematol Oncol Clin North Am       Date:  2010-10       Impact factor: 3.722

3.  Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Authors:  R C Caylor; L Grote; I Thiffault; E G Farrow; L Willig; S Soden; S M Amudhavalli; A J Nopper; K A Horii; E Fleming; J Jenkins; H Welsh; M Ilyas; K Engleman; A Abdelmoity; C J Saunders
Journal:  Neurogenetics       Date:  2018-06-20       Impact factor: 2.660

Review 4.  Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.

Authors:  Jeffrey P MacKeigan; Darcy A Krueger
Journal:  Neuro Oncol       Date:  2015-08-19       Impact factor: 12.300

5.  Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.

Authors:  Delia M Talos; David J Kwiatkowski; Kathia Cordero; Peter M Black; Frances E Jensen
Journal:  Ann Neurol       Date:  2008-04       Impact factor: 10.422

Review 6.  Familial syndromes associated with intracranial tumours: a review.

Authors:  Adrianna M Ranger; Yatri K Patel; Navjot Chaudhary; Ram V Anantha
Journal:  Childs Nerv Syst       Date:  2013-11-06       Impact factor: 1.475

7.  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

8.  Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex.

Authors:  M I Makki; D C Chugani; J Janisse; H T Chugani
Journal:  AJNR Am J Neuroradiol       Date:  2007-09-24       Impact factor: 3.825

9.  Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex.

Authors:  Yasuhiro Nakata; Noriko Sato; Ayako Hattori; Kimiteru Ito; Yukio Kimura; Kouhei Kamiya; Yoko Shigemoto; Eiji Nakagawa; Masayuki Sasaki; Kuni Ohtomo
Journal:  Jpn J Radiol       Date:  2013-02-02       Impact factor: 2.374

10.  Genetics and molecular biology of tuberous sclerosis complex.

Authors:  Valerio Napolioni; Paolo Curatolo
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236

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