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Research Portfolio

GRANT TITLE:

Understanding autonomic dysfunction in Dravet syndrome

GRANT TYPE:

EPILEPSY RESEARCH INSTITUTE AND DRAVET SYNDROME UK EMERGING LEADER FELLOWSHIP

grant amount:

£196,863

lead investigator:

Dr Lisa Clayton

Co-Investigators:

-Professor Sanjay Sisodiya

institution:

University College London

Background

Dravet syndrome is a severe type of epilepsy that begins in infancy. People with Dravet Syndrome experience seizures are difficult to treat, delayed development, and intellectual disability. Sadly, between 10-20% of people with Dravet Syndrome die during childhood, most commonly due to sudden unexpected death in epilepsy (SUDEP).

People with Dravet Syndrome also experience dysautonomia, which is an abnormality in the way body regulates internal organs and bodily processes such as heart rate, body temperature, and digestion.  Understanding dysautonomia in people with Dravet Syndrome is vital as abnormal body temperature control may contribute to the increased risk of seizures. Dysautonomia can also impair normal control of the heart rate and may increase the risk of SUDEP.

"Working closely with people living with Dravet syndrome has deepened my understanding of the importance of non-seizure aspects of condition, known as comorbidities. These comorbidities can negatively affect a person’s overall health and have substantial impacts on the quality of life for those with Dravet syndrome and their families. Dysautonomia is an important comorbidity in Dravet syndrome which is poorly understood, but which may contribute to risk of seizures and sudden unexpected death in epilepsy through various mechanisms. Through my research, I hope to advance our understanding of dysautonomia in Dravet syndrome, leading to better recognition, evaluation, and management of this crucial comorbidity.

The Study

This study will use autonomic function testing in people with Dravet Syndrome to learn more about dysautonomia and how it affects people. These simple tests can tell us if dysautonomia is present, how severe it is, and its effects on different body systems. The team will also look at previously collected genetic information to find genetic risk factors for dysautonomia in Dravet Syndrome.

Significance

This study will help develop effective methods for screening for dysautonomia in people with Dravet Syndrome, predict who may develop it, and importantly try and find ways to prevent, limit, or alleviate problems related to dysautonomia.