The gene CACNA1A is essential for brain neuronal transmission. It encodes for the aplha-1A Subunit of the P/Q-type voltage-gated calcium channel known as Cav2.1 and is found at location 13.13 on the short arm of chromosome 19. This component aids in the formation of the channel's pore, or hole, through which ions move. A mutation in the gene modifies the channel's function and influences neurotransmitter release. Among large cohorts of children with epilepsy, mutations in CACNA1A presently contribute for up to 1 in 100 (1%) cases.
The two classifications for CACNA1A variations are Gain of Function (GOF) and Loss of Function (LOF):
The calcium channel opens and remains open for a considerable amount of time in a Gain of Function variation. This leads to an increase in calcium ion influx and excessive neuron excitability.
In contrast, a Loss of Function variation causes incorrect channel opening, which lowers neuronal activity and reduces the amount of calcium that reaches the cells.
What conditions are linked to CACNA1A?
Brain illnesses associated with CACNA1A are uncommon and chronic.
Familial hemiplegic migraine (FHM1)/Sporadic hemiplegic migraine
Ataxia – Episodic Ataxia Type 2 (EA2) and congenital ataxia
Eye movement differences, such as nystagmus or paroxysmal tonic up gaze
Epilepsy
Spinocerebellar ataxia Type 6 (SCA6)
Our Ongoing Research
Supporting research projects ranging from Pre-clinical and cellular models of our condition to discovery science and the evaluation of the psychological and physiological components is our goal.
Our mission is to assist in the development of safe, efficient treatments for those with CACNA1A-related conditions. In addition to considering research and development programming, we aim to collaborate with other Parent Advisory Groups, the government, business, and academia.
The G1 molecule represents a promising approach to addressing the underlying causes of epilepsy related to CACNA1A gene mutations by restoring proper function to P/Q-type calcium channels and improving neural communication.
Resources for CACNA1A-related disorders
National Ataxia Foundation
CACNA1A Foundation
Epilepsy Foundation
