A Novel Neurodevelopmental Disorder
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder. This finding, which is partially based on observations made at CENTOGENE, was published in the highly respected journal Acta Neuropathologica.