Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Link to Full Article Cambridge, United Kingdom – 3rd December, 2019 – Congenica Ltd, a digital health company enabling rapid analysis of complex genomic data to improve disease characterization and diagnosis, has announced the publication of a new study on the re-annotation of developmental and epileptic encephalopathy-associated genes with significant clinical implications. Developmental and epileptic encephalopathies are a group of rare, […]