Now in the final year of her PhD in epilepsy and genetics at Filadelfia – Danish Epilepsy Centre (part of the Department of Regional Health Research, University of Southern Denmark), NAD PhD fellow Sopio Gverdtsiteli has recently authored a publication on some of her PhD thesis work. The publication is based on a study carried out under the supervision of Sopio’s main supervisor Professor Rikke Steensbjerre Møller in collaboration with colleagues from Filadelfia and abroad.
The article Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies concerns NDEEMA (Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis), which has been described as one of the most severe phenotypes that variants in the sodium channel gene SCN1A can cause:
“In this study, we show that NDEEMA is not limited to SCN1A but extends to the highly similar brain-expressed sodium channel genes SCN2A, SCN3A and SCN8A,” Sopio explains.
Through international collaboration and literature review, Sopio and her colleagues identified 25 individuals with SCN1A-related NDEEMA and 21 individuals with SCN2A-/SCN3A-/SCN8A-related NDEEMA. They found that a similar clinical presentation also was reflective of genetic similarities: the genetic variants observed in NDEEMA were enriched in specific hotspots and clustered in paralogous NaV (sodium channel) positions:
“By expanding the NDEEMA spectrum, we can now highlight a shared pathophysiological mechanism across paralogous sodium channel genes that opens new perspectives for diagnosis. I believe that by identifying congenital arthrogryposis as the earliest sign of sodium channelopathies, doctors can suspect sodium channel disorders as a possible cause earlier on, allowing affected individuals to be diagnosed at an early stage,” Sopio explains.
In addition, the findings might also open new perspectives on targeted treatment:
“The common clinical presentation of gain-of-function variants in these four sodium channel genes – SCN1A, SCN2A, SCN3A and SCN8A – suggests that they are underpinned by a similar pathological mechanism leading to a similar network dysfunction, which could serve as a target for therapeutic purposes. This is, of course, hypothetical at this point, but the identification of common mechanisms, particularly in the context of rare diseases, is of great benefit, as these conditions affect relatively few people and the development of common treatment methods would benefit individuals with several gene disorders simultaneously,” Sopio says.
As an NAD PhD fellow, Sopio’s road to a PhD degree has been a little different than it is for most. NAD fellows complete a pre-PhD year of lab rotations and courses prior to starting their PhD project in their lab of choice:
“I believe that the pre-PhD year has been incredibly useful, as it allowed me to practice adapting to the new environment, networking and presenting my work on numerous occasions. All of this benefitted me, as a PhD student, since the ability to network and communicate one’s research is one of the most important skills for a PhD student,” Sopio says.
Moving to Denmark from Georgia, the pre-PhD year helped Sopio build connections in Denmark and establish a foundation for her PhD project. Her PhD studies at Filadelfia, a research institution with a large international network, has taken her to meet and disseminate her research to epilepsy researchers all across the world, granting her connections she can draw on in her future career.
Read the full article Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies published in Epilepsia (April 2026) here.
Picture: Sopio and her colleagues at Filadelfia.