Dear members of the LGS Foundation,
I wanted to briefly introduce myself. My name is Vasanti Anand, and I have a PhD in biochemistry. What am I doing on this site and how do I know of the LGS Foundation, you ask? While working as a medical writer for a medical communications company, I was heavily involved in creating scientific documents and writing monthly newsletters (ex: LGS Hope Newsletter) specifically for the LGS Foundation. This writing experience ignited my passion for creating and raising awareness about LGS and am grateful for the opportunity to start here.
For our first science-based blog, I decided to focus on a recently published paper in the field of epilepsy genetics on DNM1 encephalopathy, a severe form of epilepsy caused by mutations in the DNM1 gene. DNM1 encephalopathy is a genetic epilepsy syndrome that is caused by de novo mutations (a genetic mutation that is present for the first time in a family member) in the DNM1 gene, which carries the genetic code to make the dynamin protein. Dynamin is an enzyme that is important for neuronal signaling. Many patients with DNM1 mutations develop LGS. Recently, an article describing the how this gene plays a role in epilepsy was published in the journal Neurology.
The research shows that all the mutations in DNM1 affect one of two important regions of the DNM1 protein. Affected individuals have a similar characteristics marked by severe developmental delays, low muscle tone, and epileptic encephalopathy (severe epilepsy that is characterized by developmental delay). Surprisingly, a single mutation, p.Arg237Trp (explained below), was found in approximately one-third of patients. Previous studies have indicated that mutations in DNM1 account for almost 2% of patients with Infantile Spasms or LGS, suggesting that this mutation is one of the most common mutations in intractable epilepsies. The p.Arg237Trp mutation directly affects the function of DNM1 and, along with the other mutations in DNM1, is predicted to disrupt neurotransmitter release.
DNM1 encephalopathy was first identified by exome sequencing based on the collaborative efforts of EuroEPINOMICS-RES, Epi4K and EPGPconsortium, groups that have formed to help understand epilepsy genetics and to make ideal targets for future epilepsy therapies.
This blog has been reviewed by Dr. Heather Mefford (Associate Professor in the Division of Genetic Medicine at the University of Washington and LGS Foundation Scientific Advisory board member).