A Novel Disorder of Nerve Cell Communication

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes. Several patients as identified in CENTOGENE’s large mutation database, CentoMD®, contributed to this discovery, which was published in the highly prestigious journal Brain.


  • Caroline Neuray
  • et al.