Dravet Syndrome UK bolsters team of Professional Advisors

Chesterfield, 17th February 2020. Dravet Syndrome UK (DSUK), the charity dedicated to improving the lives of those affected by Dravet Syndrome, is expanding its board of Professional Advisors. Dravet Syndrome is a life-limiting neurological condition that occurs in one child out of every 15,000 born in the UK. 

In 2019, the number of families that DSUK supports grew to more than 500. Significant progress has been made in the scientific understanding of Dravet Syndrome, enabling the development of new and emerging treatments. Given this changing environment, DSUK announces the following appointments to its Professional Advisory Board. 

Professor Helen Cross OBE becomes Chair

A globally-recognised authority on Dravet Syndrome, Professor Helen Cross is appointed to the newly-created role of Chair. Awarded an OBE in 2015 for her services to children with epilepsy, Professor Cross is currently Prince of Wales’s Chair of Childhood Epilepsy at UCL-Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children, London and Young Epilepsy, Lingfield, UK

Commenting on her appointment, Professor Cross said, “DSUK has an incredibly important role to play within the Dravet Syndrome community. The support and information they provide makes a huge difference for families living with this difficult, life-limiting syndrome, while their fundraising and support of medical research is greatly valued. I look forward to working even more closely with the charity during exciting times of change ahead”. 

Dr Andreas Brunklaus brings additional expertise

In recognition of his recent research into the natural history of Dravet Syndrome and quality of life expertise, Dr Andreas Brunklaus, represents a new addition to DUSK’s panel of Advisors. Paediatric Neurologist at the Royal Hospital for Children, Glasgow, and Honorary Senior Clinical Lecturer at the University of Glasgow, Dr Brunklaus joins alongside his colleague and existing Advisory Board member, Professor Sameer Zuberi. 

“Receiving a diagnosis of Dravet Syndrome can be devastating for families and feel very isolating”, explained Dr Brunklaus. “It has an impact on so many different aspects of the families' lives, not only health-related quality of life but overall quality of life. As well as providing a wealth of information, DSUK offers a place for families to share their concerns, to seek advice, and get support on how to address the wide range of challenges that they encounter. I think this is really important and I’m delighted to be joining the Advisory Board”.

Setting priorities for the future

“These appointments will help us navigate the scientific and medical environment, and set priorities for where DSUK can make the most difference for families living with Dravet Syndrome,” said Galia Wilson, Chair, DSUK. “Formalising Professor Cross’s role as Chair recognises the important contributions she is making on a global stage and will help ensure DSUK remains closely aligned to the latest medical knowledge regarding this complex condition.

“We are also thrilled to welcome Dr Brunklaus to our panel of Advisors”, continued Galia. “While seizure control continues to be critical, there is an urgent need to also address the often severe comorbidities associated with Dravet Syndrome. Dr Brunklaus brings valuable expertise and insights that will help us achieve this goal”. 

The DSUK Professor Advisory Board now comprises six leading experts in Dravet Syndrome. In addition to Dr Brunklaus and Professors Cross and Zuberi, these include Dr Elaine Hughes, Lead Consultant for Children's Epilepsy and for Regional Children's Epilepsy Services in South East London, Kent, and East Sussex; Professor Sanjay Sisodiya, Professor of Neurology at the UCL Institute of Neurology and Neil Williams, Children’s Epilepsy Nurse specialist. Find out more about our Professional Advisors here.

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About Dravet Syndrome:

Dravet Syndrome is a rare neurological condition causing severe, difficult to control seizures, alongside varying degrees of learning disability and other issues, such as autism, mobility problems, speech difficulties and feeding problems. Dravet Syndrome affects around one in every 15,000 people. In most cases, Dravet Syndrome is caused by a mutation in a gene known as SCN1a.

About Dravet Syndrome UK:

Dravet Syndrome UK (DSUK) is an independent charity dedicated to improving the lives of those affected by Dravet Syndrome through support, education and medical research. We do this by:

• Supporting families affected by Dravet Syndrome emotionally, practically and financially. 
• Raising awareness and understanding of Dravet Syndrome among medical professionals
• Funding medical research to increase understanding of Dravet Syndrome, improve its management, work towards better outcomes and to hopefully one day find a cure

Visit www.dravet.org.uk for more information about Dravet Syndrome and how DSUK is helping to bring hope to families living with this condition. 

Recent publications by Professor Cross include:

• Cross JH. Genetics in the epilepsies - A broadening concept. Eur J Paediatr Neurol. 2020 Jan 10. pii: S1090-3798(20)30010-6. doi: 10.1016/j.ejpn.2020.01.009. [Epub ahead of print] 
• Shafran R, Bennett S, Coughtrey A, Welch A, Walji F, Cross JH, Heyman I, Sibelli A, Smith J, Ross J, Dalrymple E, Varadkar S; MICE Research Study Team, Moss-Morris R. Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods. Clin Child Fam Psychol Rev. 2020 Jan 21. doi: 10.1007/s10567-019-00310-3. [Epub ahead of print].
• Specchio N, Pietrafusa N, Cross HJ. Source of cannabinoids: what is available, what is used, and where does it come from? Epileptic Disord. 2020 Jan 1;22(S1):1-9. doi: 10.1684/epd.2019.1121.
• Guerrini R, Cross H, Nabbout R, Dalla Bernardina B. Dravet syndrome and other sodium channel-related encephalopathies. Epilepsia 2019 Dec;60 Suppl 3:S1. 
• Cross JH, Caraballo RH, Nabbout R, Vigevano F, Guerrini R, Lagae L. Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia 2019 Dec;60 Suppl 3:S39-S48.
• Cross JH, Lagae L. The concept of disease modification. Eur J Paediatr Neurol. 2019 Dec 17. pii: S1090-3798(19)30425-8. doi: 10.1016/j.ejpn.2019.12.005. [Epub ahead of print]
• Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group. Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. Lancet 2020 Dec 21;394(10216):2243-2254.
• Cross JH, Cock H. A perspective on cannabinoids for treating epilepsy: Do they really change the landscape? Neuropharmacology. 2019 Nov 23:107861. doi: 10.1016/j.neuropharm.2019.107861. [Epub ahead of print] Review.
• Auvin S, Avbersek A, Bast T, Chiron C, Guerrini R, Kaminski RM, Lagae L, Muglia P, Cross JH. Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. Drugs. 2019 Dec;79(18):1917-1935.
• Bialer M, Cross H, Hedrich UBS, Lagae L, Lerche H, Loddenkemper T. Novel treatment approaches and pediatric research networks in status epilepticus. Epilepsy Behav. 2019 Dec;101(Pt B):106564. doi: 10.1016/j.yebeh.2019.106564. 
• van der Louw E, Aldaz V, Harvey J, Roan M, van den Hurk D, Cross JH, Auvin S; Review Group. Optimal clinical management of children receiving ketogenic parenteral nutrition: a clinical practice guide. Dev Med Child Neurol. 2020 Jan;62(1):48-56.
• Hargreaves DS, Arora S, Viveiro C, Hale DR, Ward JL, Sherlaw-Johnson C, Viner RM, Dunkley C, Cross JH. Association of quality of paediatric epilepsy care with mortality and unplanned hospital admissions among children and young people with epilepsy in England: a national longitudinal data linkage study. Lancet Child Adolesc Health. 2019 Sep;3(9):627-635. 
• Pitkänen A, Henshall DC, Cross JH, Guerrini R, Jozwiak S, Kokaia M, Simonato M, Sisodiya S, Mifsud J. Advancing research toward faster diagnosis, better treatment and end of stigma in epilepsy. Epilepsia 2019 Jul;60(7):1281-1292.
• Fisher RS, Cross H, D'Souza C, French JA, Haut S, Higurashi N, Hirsch E, Jansen FE, Peltola J, Moshé SL, Perucca E, Lagae L, Roulet-Perez E, Schulze-Bonhage A, Scheffer IE, Somerville E, Sperling MR, Wiebe S, Yacubian EM, Zuberi S. 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. Epilepsia 2019 Jun;60(6):1040-1044. 

Recent publications by Dr Brunklaus include:

• Brunklaus A, Du J, Steckler F, et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 2020 – in press
• Brunklaus A, Lal D. Shedding light on sodium channel epilepsy and neurodevelopmental disorders. Dev Med Child Neurol. 2020 – in press
• Heyne H, Baez-Nieto D, Iqbal S, Palmer D, Brunklaus A, et al. Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels. Sci Transl Med. 2020 – in press
• López-Rivera J, Pérez-Palma E, Symonds JD, Lindy AS, McKnight DA, Leu C, Zuberi SM, Brunklaus A, Møller RS, Lal D. A catalog of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain 2020 – in press
• Brunklaus A. Knowing when and how to use epilepsy screening questionnaires. Epilepsia 2020 – in press
• Brunklaus A. Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification. Eur J Paediatr Neurol. 2020 Jan 10. pii: S1090-3798(20)30009-X. doi: 10.1016/j.ejpn.2020.01.008.
• Brunklaus A, Schorge S, Smith AD et al. SCN1A variants from bench to bedside-improved clinical prediction from functional characterisation. Hum Mutat. 2019 doi:10.1002/humu.23943.
• Brunklaus A, Leu C, Gramm M et al. Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur J Paediatr Neurol. 2019 pii: S1090-3798(19)30421-0.
• Du J, Simmons S, Brunklaus A, et al. Differential excitatory/inhibitory expression ratios at single cell level regulate brain sodium channel function – implications for neurodevelopmental disorders. Eur J Paediatr Neurol. 2019;pii: S1090-3798(19)30439-8.
• Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of SCN2A related disorders, treatment options and outcomes in epilepsy and beyond. Epilepsia 2019 Suppl 3:S59-S67. doi: 10.1111/epi.14935.
• Symonds JD, Zuberi SM, Stewart K, Lang B, McLellan A, O’Regan M, MacLeod S, Jollands A, Vincent A, Joss S, Kirkpatrick M, Brunklaus A, et al. The incidence and phenotypic spectrum of the single-gene epilepsies of early childhood: a prospective population-based national cohort study. Brain 2019 142(8):2303-2318.
• Brunklaus A. A good night's sleep in Dravet syndrome – an unmet need. Eur J Paediatr Neurol. 2019 23(1):6
• Brunklaus A. Dravet syndrome - Time to consider the burden beyond the disease. Eur J Paediatr Neurol. 2019 23(3):344.
• Zuberi SM & Brunklaus A. Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Rev Neurol 2018 14(2):67-68
• Steel D, Symonds J, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia 2017 58(11):1807-1816

Contact:

For more information or for case studies please email claire.e@dravet.org.uk  

For fundraising information please email linzi.c@dravet.org.uk