Families

TRPM3-related disorder is a very rare genetic condition caused by changes (mutations) in the TRPM3gene, which codes for a channel that moves calcium and other ions into cells. Changes in the TRPM3gene can make the TRPM3 protein overactive, which affects how brain cells function and communicate. These overactive variants are linked to a range of neurological and developmental challenges. Most people with a TRPM3‑related condition have developmental delay, learning difficulties, and often epilepsy or abnormal brain‑wave patterns on EEG.

Only a few dozen cases of TRPM3-related disorder have been reported worldwide, so it is considered extremely rare. Most cases happen de novo, meaning the change in the gene was not inherited from the parents. However, in rare situations, the variant can be passed down to a child from a parent who has only mild symptoms.