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  1. A Novel Disorder of Nerve Cell Communication

A Novel Disorder of Nerve Cell Communication

Caroline Neuray et al.
July 23, 2020

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.