Families

What is MDGA2-related encephalopathy?
MDGA2-related developmental and epileptic encephalopathy is a rare genetic brain condition present from birth. It is caused by changes (also called a mutation or pathogenic variant) in both copies of the MDGA2gene. The MDGA2gene normally provides instructions for making a protein that acts as a brake on connections between brain cells. When neither copy of the gene works correctly, this brake is lost, brain cell connections become overactive, and this leads to severe seizures from early infancy.

How many people are affected by MDGA2-related encephalopathy?
MDGA2-related encephalopathy is a very rare condition, it has been identified in a small number of children worldwide, mainly in families where parents are related to each other. Currently, fewer than ten children have been described in the medical literature. However, the prevalence is expected to be higher as clinical awareness and genetic screening expand.

How is it inherited?
The condition is passed on in an autosomal recessive pattern. This means both parents carry one changed copy of the gene but are healthy themselves. When both parents are carriers, each pregnancy has a 1 in 4 (25%) chance of resulting in an affected child. This is particularly relevant in consanguineous families, where both parents are more likely to carry the same gene change.