Translational research:  Rett syndrome and tuberous sclerosis complex.

doi:10.1097/MOP.0b013e32834c9251

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Article

Translational research: Rett syndrome and tuberous sclerosis complex.

Current opinion in pediatrics - 1 Dec 2011

Khwaja Omar S, Sahin Mustafa

Abstract excerpt

PURPOSE OF REVIEW: Rare genetic diseases that affect behavior and cognition provide a unique opportunity to study the mechanisms of neurodevelopmental disorders through the examination of animal models, which can lead to development of hypotheses and treatments testable in human beings. Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are both Mendelian disorders that present with autism, epilepsy, and...

Topics

Animals
Behavior
Cognition
Genetic Predisposition to Disease
Humans
Intellectual Disability
Rett Syndrome
Translational Research, Biomedical
Tuberous Sclerosis

Source

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Identifiers

PMID: 21970827
DOI: 10.1097/MOP.0b013e32834c9251
PMCID: PMC3212611

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