LOC100287042
Description
Loc100287042 is a chromosomal location found on chromosome 10 in humans. It encompasses approximately 3.5 million base pairs of DNA and contains several genes that play important roles in various biological processes. One notable gene located within this region is the SCN1A gene, which encodes a sodium channel protein crucial for nerve cell communication.
Associated Diseases
Mutations within loc100287042 have been linked to several genetic disorders, including:
- Dravet Syndrome: A severe epileptic encephalopathy characterized by frequent and prolonged seizures beginning in infancy.
- Generalized Epilepsy with Febrile Seizures Plus: A type of epilepsy associated with seizures triggered by fever and other factors.
- Sudden Unexpected Death in Epilepsy (SUDEP): A potentially fatal condition where individuals with epilepsy experience a sudden and unexpected death without an apparent cause.
- Autism Spectrum Disorder (ASD): A neurodevelopmental disorder characterized by social, communication, and behavioral difficulties.
- Cognitive Impairment and Developmental Delay: Intellectual disabilities and developmental delays can occur in individuals with mutations in this region.
Did you Know ?
According to the Epilepsy Foundation, Dravet Syndrome affects approximately 1 in 15,000 to 20,000 newborns. It is one of the most common forms of severe childhood epilepsy.
