CeGaT has developed the most comprehensive NGS cancer gene panel with 552 genes for the detection of somatic mutations. In addition, CeGaT offers a
Germline Tumor Panel with 97 genes as well as full Exomes Diagnsotics for cancer patients.
Gene mutation for common childhood epilepsy detected using the CeGaT Epilepsy panels.
More than 50 million people worldwide have epilepsy, a third of them are children. The most common forms of epilepsy in
children occur without apparent cause and affect only certain brain regions. They are called idiopathic focal epilepsy (IFE). Characteristic of this disease
is a seizure originating in the so-called Rolandic region of the brain. Now it is possible to identify the first disease gene for idiopathic focal epilepsies.
It is the gene GRIN2A. Changes of the gene lead to disorders of the ion channel function of a key in the brain which affects the electrical excitability of
nerve cells. This can lead to increased electrical discharges in the brain and thus explain the occurrence of epileptic seizures. The study has now been
published in the international journal Nature Genetics.