Sadly, many people suffer from epilepsy and developmental delays, which presents many challenges for both individual patients and their families.
According to the WHO , there are more than 50 million people worldwide with epilepsy – and an estimated 70% could be seizure free with the right medication. An early diagnosis can help clinicians prescribe the right medication and in turn prevent seizures from damaging the brain.
In our blog series on clinical cases, we share examples of how Congenica enables and accelerates diagnosis and helps maximize the chances of identifying causal variants. Here is how the Congenica Clinical Consultancy Services (CCS) team helped with the genetic diagnosis of a KCNH1 epilepsy case.
