Unlocking the Genetics of Seizures
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE. The study, which confirms recent similar observations, was published in the Journal of Medical Genetics.