alexa Abstract | Tuberous Sclerosis Complex Confirmed by Genetic Analysis: A Case Report

Journal of Neurology and Neuroscience
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report Open Access


Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal-dominant, neurocutaneous, multisystem disorder [1]. The underlying genetic cause is mutations in the TSC1 or TSC2 gene, which leads to overactivation of the mammalian target of rapamycin (mTOR) protein complex [2,3]. The main clinical features of the disease are facial sebaceous adenomas, epilepsy, and hypophrenia. Currently diagnosis is based on the criteria established at the 2012 International Tuberous Sclerosis Complex Consensus Conference [4]. mTOR inhibition is presently the main treatment [2,5]. It is still difficult to differentially diagnose TSC from other conditions such as neurofibromatosis, epilepsy, and mental disease, which makes genetic analysis important in its diagnosis.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Chenguang Li Songjie Liao and Jian Yu


Tuberous sclerosis complex, Genetic analysis, Case report, Brain Neurology,Behavioral Neuroscience,Multiple sclerosis

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version