Featuring the work of former CURE Grantee, Dr. Gemma Carvill
Summary of Abstract
Mutations in a channel, known as CACNA1H, which allows calcium ions into nerve cells, were originally reported in a group of children with absence epilepsy, a disorder in which the seizures involve brief staring spells or repetitive movements like mouth chewing. Although this initial finding resulted in the gene’s being included in genetic tests offered by commercial laboratories, its status as a singular cause of epilepsy is controversial.
The authors analyzed published variants and those reported in ClinVar, a freely-available public database of genetic mutations, and found none would be classified as disease-causing. Moreover, these mutations did not change seizure propensity in mouse models.
Overall, the authors conclude that there is limited evidence that mutations in this channel are responsible for epilepsy in humans and that the gene should be removed from commercial genetic testing panels to reduce the burden of mutations of uncertain significance for healthcare providers, families and patients with epilepsy.