Medical research

Researchers discover the cause of an inherited form of epilepsy

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. ...

Genetics

Mutation in APC2 gene causes Sotos features

Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90% of Sotos syndrome patients have mutations in the NSD1 gene. This ...

Health

US Supreme Court set for death row IQ appeal

A Florida inmate is challenging the US state's use of a rigid IQ number to determine intellectual disability, in a case that spotlights the issue of the mentally ill on death row.

Medical research

Researchers discover new therapy for fragile X chromosome syndrome

Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral ...

Medical research

Protecting against aging at the molecular level

Research from Western University and Lawson Health Research Institute sheds new light on a gene called ATRX and its function in the brain and pituitary. Children born with ATRX syndrome have cognitive defects and developmental ...

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