Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Adult-onset spinal muscular atrophy (SMA) is a rare neuromuscular disorder that primarily affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. SMA is part of a group ...

The ARX gene, which encodes a paired-type homeobox transcription factor, is crucial in forebrain development and interneuron specification. Mutations in ARX have been implicated in a spectrum of ...

Mutations in the GNAO1 gene are a well-known cause of severe neurodevelopmental disorders, most often associated with early-onset epilepsy, movement problems, and developmental delay. However, the ...

As we age, the genes in our cells accumulate more mutations. This is one of the contributory factors to age-related diseases and the aging process. However, in a new study published in Science ...

ATP-binding cassette (ABC) transporters are transmembrane proteins essential for the biliary secretion of bilirubin, bile acids, phospholipids, and ...