Families

Inheritance of NEDESBA
A genetic coding mistake in a gene called TRAPPC4 causes a rare and severe brain condition in young children. This condition is also called NEDESBA which stands for neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. These children had seizures, developmental delay, smaller brain and head s (microcephaly) and problems with limb movements. Their condition worsened with time.

The children inherit two copies of the genetic mistake, one from each of their parents. The unaffected parents have one copy with the mistake and one normal copy, which is sufficient to prevent developing NEDESBA.

Currently there are no treatments for children with NEDESBA.