CACNA1A

Description

The CACNA1A gene provides instructions for making a protein called alpha-1A subunit, a crucial component of calcium channels in the brain and nervous system. These channels act as gates, controlling the flow of calcium ions into nerve cells. Calcium ions play a critical role in nerve cell communication, impacting processes like neurotransmitter release and muscle contraction. Mutations in the CACNA1A gene can disrupt the function of these calcium channels, leading to a range of neurological disorders.

Associated Diseases

• Epilepsy (especially episodic ataxia type 2)
• Spinocerebellar ataxia type 6 (SCA6)
• Familial hemiplegic migraine (FHM)
• Childhood absence epilepsy (CAE)
• Generalized epilepsy with febrile seizures plus (GEFS+)
• Idiopathic generalized epilepsy (IGE)

Did you know?

Mutations in the CACNA1A gene are responsible for a wide spectrum of neurological disorders, highlighting the critical role of calcium channels in brain function.