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JCI online early table of contents: March 14, 2011
Date:3/14/2011

44581?key=f61057fe9d33f827c5df">http://www.jci.org/articles/view/44581?key=f61057fe9d33f827c5df

NEUROBIOLOGY New understanding of the brain lesions and seizures in Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes benign tumors (called tubers) to form in all of the major organ systems, including the heart, kidney, and brain. Tubers in the cortex area of the brain are associated with epileptic seizures, and it is estimated that 90% of TSC patients suffer from seizures at some point in their lifetime. Although the genetic causes of TSC have been identified, the mechanisms that result in cortex tuber formation and seizures are not well understood, in part because existing animal models of the disease do not recapitulate these phenotypes.

In new research, Anglique Bordey and colleagues, at Yale University School of Medicine in New Haven, Connecticut, utilized an innovative strategy to delete one of the causative genes (Tsc1) in mice in selected neuronal populations during embryonic development. The resulting mice developed tuber-like cortical lesions and were more susceptible to seizures. The researchers believe that their findings are the first to demonstrate that deletion of two copies of Tsc1 is required for the generation of cortical lesions, and they are hopeful that this model will allow further investigation of the pathogenesis of TSC.

TITLE: Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice.

AUTHOR CONTACT:
Angelique Bordey
Yale University School of Medicine, New Haven, CT, USA
Phone: 203-737-2515; Fax: ; E-mail: angelique.bordey@yale.edu

View this article at: http://www.jci.org/articles/view/44909?key=d7aeab152f2f21067bcb

ONCOLOGY Cop1
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Contact: Kathryn Claiborn
press_releases@the-jci.org
Journal of Clinical Investigation
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