FAM83C
Title: FAM83C: A Gene Implicated in Neurological Disorders and Neurodevelopmental Conditions
Description:
FAM83C is a gene that encodes a protein involved in regulating the activity of certain ion channels in the brain. Mutations in this gene have been linked to a range of neurological disorders and neurodevelopmental conditions, including epilepsy, intellectual disability, and autism spectrum disorder.
Associated Diseases:
- Epilepsy: FAM83C mutations have been identified in individuals with various types of epilepsy, including generalized seizures, focal seizures, and epileptic encephalopathies. These mutations can disrupt the normal function of ion channels in the brain, leading to abnormal electrical activity and seizures.
- Intellectual Disability: Mutations in FAM83C have also been associated with intellectual disability, a condition characterized by significant limitations in intellectual functioning and adaptive behavior. These mutations may affect the development and function of brain regions involved in cognition and learning.
- Autism Spectrum Disorder: Some studies have identified FAM83C mutations in individuals with autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by difficulties with social interaction, communication, and repetitive behaviors. These mutations may contribute to the neurological and behavioral abnormalities associated with ASD.
Did you Know ?
Approximately 1 in 10,000 individuals is estimated to have a mutation in the FAM83C gene. This relatively rare mutation can have a significant impact on the neurological and cognitive development of affected individuals.
