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URSINI , Matilde Valeria

Last name: URSINI

First name: Matilde Valeria

December 11, 2012 (v1)

Journal article

Metadata-only

A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX.

Poeta, Loredana Fusco, Francesca Drongitis, Denise

Intellectual disability (ID) and epilepsy often occur together and have a dramatic impact on the development and quality of life of the affected children. Polyalanine (polyA)-expansion-encoding mutations of aristaless-related homeobox (ARX) cause a spectrum of X-linked ID (XLID) diseases and chronic epilepsy, including infantile spasms. We show...

Uploaded on: December 4, 2022