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  1. Unlocking the Genetics of Seizures

Unlocking the Genetics of Seizures

Reza Maroofian, PhD et al.
July 27, 2020

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.