PhD Stéphanie Baulac is a research director and group leader at Institut du Cerveau et de la Moëlle in Paris. In the field of epilepsy genetics Stéphanie Baulac must be considered as an excellent researcher, who significantly contributed to the current state-of-knowledge based on a long list of highly relevant and outstanding publications. Her studies resulted in the identification of several epilepsy genes. In this context, it needs to be emphasized that our growing understanding of epilepsy genetics significantly contributes to an improved clinical management with precise prognoses and even more importantly novel opportunities for tailored and personalized therapeutic approaches.
Stéphanie Baulac already became one of the leading and very renowned researchers in the field at a relatively young age. She dedicated her complete professional career to the improvement of our understanding of the genetic causes of epilepsies.
Stéphanie Baulac has submitted three excellent and highly relevant publications, which are focused on the identification and characterization of germline, germline/mosaic, and brain somatic mutations of DEPDC5 in focal epilepsies. As DEPDC5 serves as a negative regulator of the mTORC1 signaling pathway, loss-of-function mutations cause mTORC1 hyperactivity. Building on her previous work, the role of respective mutations in the pathophysiology of focal cortical dysplasia has also been demonstrated by the price candidate. In an elegant approach, the relevance of a clinical genetic finding with a DEPDC5 mosaic mutation was further confirmed by functional characterization of a mouse model, which has been generated based on CRIPS-Cas9 editing and in utero electroporation. This represents an outstanding example of genetic research, with which the functional implications of clinical genetic findings are further explored by experimental work.
As pointed out in one of the candidate’s publications the findings suggest promising therapeutic avenues for treatment of drug-resistant focal epilepsy with mTORC1-targeting approaches, which are already applied in other etiologies.
PhD Baulac has thus contributed significantly to the area of epilepsy genetics, which makes her a worthy holder of the Michael Prize 2019.
Dr. Birgit Frauscher
from the department of neurology and neurosurgery at McGill University in Canada is a valuable and esteemed member of our research community due to her outstanding work in neurophysiology of epilepsy.
There are important interactions between sleep and epilepsy; sleep may influence the occurrence of epileptic seizures, and epilepsy may affect sleep. Dr Frauscher, who had been already well known for her excellent works in sleep research, extended her skills and experiences in sleep field to epileptology. In her article selected for the Michael Prize (Frauscher B, von Ellenrieder N, Ferrari-Marinho T, Avoli M,Dubeau F, Gotman J. Facilitation of epileptic activity during sleep is mediated by high amplitude slow waves. Brain 2015; 138: 1629-41), she found the important role of high synchronization during the sleep slow waves to facilitate epileptic activity by using combined scalp-intracerebral electroencephalography. In another selected publication (Sleep, 2015), on the other hand, she showed the negative influence of interictal spiking on the occurrence of sleep spindles in the area of hippocampus.
In addition to her further excellent and relevant research works using the extra- and intracranial EEGs including the nature and significance of spikes, high and slow frequency activities in seizure generation and location, Dr Frauscher also investigated the physiological oscillations or region-specific normative values to better differentiate pathological activities in epilepsy. A third selected article "Atlas of the normal intracranial electroencephalogram" (Brain, 2018) then provided a normative baseline in different cortical areas which should serve as a reference in investigating the abnormal activities of the brain.
Dr. Frauscher has thus contributed significantly to the area of neurophysiology in epilepsy, which makes her a worthy holder of the Michael Prize 2019.
, Yusi Inoue
, Jean Gotmann