Texas Children’s neurologists Drs. Sunita Misra and Dana Marafie and Clinical Pharmacy Specialist Dr. Mindl Messinger will be presented with the 2015 Young Investigator Award at the American Epilepsy Society’s Annual Meeting next month.
Each year, this prestigious award recognizes 20 outstanding young investigators conducting basic, translational or clinical epilepsy research. Their work has helped advance our understanding of epilepsy and identify novel approaches to treat seizures in children.
Texas Children’s applauds our 2015 Young Investigator Award recipients whose research abstracts were selected from more than 1,200 submissions.
Learn more about their award-winning epilepsy research projects:
Dr. Dana Marafie
Project Title: MECP2 duplication is associated with severe epileptic encephalopathy in the presence of permissive genetic background
Primary Investigator: Dr. Dana Marafie
Mentors: Drs. Bernhard Suter and Alica M. Goldman
MECP2 duplication syndrome is a neurodegenerative syndrome with prominent neurological features including very low muscle tone in infancy, severe intellectual disability, psychomotor regression, autistic spectrum disorder and spasticity.
This duplication is commonly carried on the X-chromosome and thus all males are affected while females are rarely affected due to favorable X-chromosome inactivation as they have an additional X-chromosome that compensates for the genetic change.
Although epilepsy is described as a feature, the characteristics of epilepsy in this syndrome are not fully understood. Less than 200 cases of this syndrome is described in the literature. The Blue Bird Clinic Rett Center at Texas Children’s is considered one of the largest national centers caring for more than 40 patients with this syndrome.
In our study, we found that epilepsy is a frequent condition in patients affected by MECP2 syndrome and it is often severe. This finding is very important because seizures have serious consequences on the general health and overall quality of the life of patients and their families. The molecular risk for development of epilepsy in this patient population is unclear. Our pilot genetic screening has identified several candidate biological pathways and we are actively enrolling families of children affected by MECP2 syndrome and epilepsy in order to better understand the causes and opportunities for treatment of epilepsy in this vulnerable population.
Interested families can contact the investigators at MECP2epilepsy@bcm.edu
Dr. Mindl Messinger
Project Title: Evaluation of the prevalence of pharmacogenetic polymorphisms in pediatric neurology patients with whole exome sequencing
Authors: Messinger Mindl, Alter E, Bernhardt B, DiCarlo S, Wilfong A
Pharmacogenetics is the study of genetic variation on drug response and has been considered a possible contributor to the high treatment failure rate in patients with epilepsy.
Some of the genetic differences in drug-metabolizing enzymes can cause some patients to metabolize a drug quickly, making it less effective, while other patients metabolize a drug poorly, causing it to remain in their bodies longer which could potentially lead to more side effects.
In this study, Messinger and her colleagues aimed to describe the prevalence of specific drug-metabolizing enzymes in neurology patients who have undergone Whole Exome Sequencing at Texas Children’s Hospital. The study found a high prevalence of the genetic variants studied, which demonstrated a potential need to alter medication dosing for certain antiepileptic drugs and increase the need for more drug monitoring.
Dr. Sunita Misra
Title: Abnormal cortical network excitability in an animal model of infantile spasms
Primary Investigator: Dr. Sunita Misra
Infantile spasms is a severe form of childhood epilepsy that has many different causes. Often children with infantile spasms develop intellectual disability, autism or other types of epilepsy.
Conducted in Dr. John Swann’s lab at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s, Misra’s study examined the abnormal brain activity in an animal model of infantile spasms. She and her research team discovered significant changes in the brain excitability including high frequency oscillations which were recently seen on EEGs (brain wave studies) of patients with infantile spasms. Misra hopes the findings in her study will help enhance the understanding of what causes infantile spasms and how to better treat it.
In addition to the Young Investigator Award, Misra’s research poster was selected to be highlighted in the Investigator Workshop which means it will be presented twice during the American Epilepsy Society Annual Meeting in December.