Annals of Neurology Publishes 2012 CURE Grantee’s Paper
Published in the September issue of Annals of Neurology was a paper by Vanderbilt University investigator and CURE Grantee Jingqiong (Katty) Kang of Vanderbilt University recently published a paper in the journal Annals of Neurology. Dr. Kang’s work focuses on Dravet Syndrome, a severe form of infantile epilepsy. Genetic changes in the gene that codes for a major inhibitory receptor in the brain (GABRG2) can cause Dravet Syndrome, but it can also cause less severe forms of epilepsy. Dr. Kang’s work shows that different types of genetic changes in this gene can lead to the differences in epilepsy seen in patients. For example, patients who have a truncating mutation early in the sequence of this gene, have more severe seizures than patients who have a truncating mutation later in the gene sequence. This work explains how patients with defects in the same gene might have very different types of epilepsy and lays the foundation for future work aimed at stopping seizures in these patients.
They have made a mouse model carrying a mutation in a gene that causes a severe form of epilepsy known as Dravet Syndrome. The mice carrying this mutation had seizures and other neurodevelopmental abnormalities. This provides a very useful window to understanding the pathophysiology of epilepsy.
In the recent paper, they demonstrated that the level of mutated GABA receptor subunits was related to the severity of the epilepsy observed. This work provides an example of how the variety of mutations found in one gene can affect the severity of disease. CURE is proud to have funded this work and pleased to see Ms. Kang receiving recognition for her findings.
Click to download the Research Article (pdf)