Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

CeGaT involved in the discovery of a new disease gene for early childhood Epilepsy

Based on the sequencing of a patient with our Diagnostic Panel for Epilepsy in 2010, a research consortium including groups in Leipzig, Tübingen and other co-operation partner has succeeded in describing a new cause of epilepsy in children in the journal Nature Genetics. It is a potassium ion channel gene (KCNA2), which plays an important role in the conduction of electrical stimuli in the brain. The paper shows that mutations in this gene are involved in the development of epilepsy and partially delayed mental development.

These new findings will give patients a more sophisticated prediction of disease progression and important information about the risk of recurrence within the family. In some cases better treatment and a more targeted therapy can be provided.

The gene KCNA2 is part of the CeGaT Epilepsy & Migraine panels and may at any time be requested. The epilepsy panel is now available in version 6.1 and contains 397 genes.

Details on the study can be found on the website of Nature Genetics.

CeGaT’s Exome Sequencing identifies the cause of a rare syndrom

CeGaT successfully clarified the cause for a patient’s disease by sequencing and diagnosing the exomes of the young patient and their parents. A point mutation was found in the gene SATB2 which caused the disease. To date, only one mutation in the SATB2-gene has been identified worldwide. Together with the Klinikum Stuttgart, the phenotype of the SATB2-associated syndrome (SAS) was described and published in the European Journal of Human Genetics.