Ontology highlight
ABSTRACT:
SUBMITTER: Poeta L
PROVIDER: S-EPMC3542471 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Poeta Loredana L Fusco Francesca F Drongitis Denise D Shoubridge Cheryl C Manganelli Genesia G Filosa Stefania S Paciolla Mariateresa M Courtney Monica M Collombat Patrick P Lioi Maria Brigida MB Gecz Jozef J Ursini Matilde Valeria MV Miano Maria Giuseppina MG
American journal of human genetics 20121213 1
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 that lysine-specific demethylase 5C (KDM5C), a gene known to be mutated in XLID-affected children and involved in chromatin remodeling, is directly regul ...[more]