Professor Andreas Brunklaus

Approved by AB

Professor Andreas Brunklaus, is a Consultant Paediatric Neurologist at the Royal Hospital for Children, Glasgow and Honorary Professor at the School of Health and Wellbeing, College of Medical, Veterinary and Life Sciences, University of Glasgow.

Following 2 years of voluntary work in Brussels and the Dominican Republic, he graduated from the Charité Medical School, Humboldt University Berlin, Germany with First Class Honours. He trained in paediatric neurology at Guy’s and St Thomas’ and Great Ormond Street Hospital in London before completing his research fellowship and MD thesis on “Genotype – Phenotype Relationships in SCN1A Related Childhood Epilepsies” at the University of Glasgow for which he was awarded the “Mac Keith Prize” by the British Paediatric Neurology Association for making a significant contribution to child neurology. Following specialist clinical training at Great Ormond Street Hospital in London he returned to Glasgow in 2015 as consultant paediatric neurologist to develop a state-of-the-art clinical research programme for precision medicine in the epilepsies and was granted an NRS Career Researcher Fellowship in 2017.

Professor Brunklaus leads international research collaborations developing cutting edge diagnostic tools in epilepsy genetics, has published widely in high impact journals and has written numerous book chapters. He is an international expert in SCN1A related childhood epilepsies and Dravet syndrome with frequent national and international speaking engagements. He has generated substantial grant income building a portfolio of clinical studies both commercial as well as investigator-initiated studies and is the UK chief investigator for “SCN1A Horizons - A natural history study of SCN1A-related epilepsies in the United Kingdom”.

In 2020 he was appointed lead of the Scottish Paediatric Epilepsy Network, funded by the Scottish Government, promoting clinical and research excellence in the epilepsies across Scotland. He has numerous national and international advisory board positions, is co-chair of the International League Against Epilepsy (ILAE) Task Force on Clinical Genetic Testing and editorial board member of the European Journal of Paediatric Neurology.

He is the national paediatric epilepsy training course lead with teaching commitments at the University of Glasgow including the academic lead of the Post Graduate Certificate in Child Health Neurology Section. He regularly hosts national education and research meetings, supervises University of Glasgow students in their BSc (Med Sci) and examines PhD theses at national and international level.

 

Contact details:

Andreas.Brunklaus@glasgow.ac.uk

Andreas.Brunklaus@ggc.scot.nhs.uk

 

Administrator: Ms Isla Birnie

Telephone: +44 (0) 141 451 5879

Email: Isla.Birnie@glasgow.ac.uk

 

Postal address:

Zone 1, Ground Floor

Office Block

Royal Hospital for Children

1345 Govan Road

Glasgow 

G51 4TF

Publications

PubMed

 

Articles:

  • 1: Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675; PMCID:
  • Koh S, Wirrell E, Vezzani A, Nabbout R, Muscal E, Kaliakatsos M, Wickström R Riviello JJ, Brunklaus A, Payne E, Valentin A, Wells E, Carpenter JL, Lee K, Lai YC, Eschbach K, Press CA, Gorman M, Stredny CM, Roche W, Mangum T. Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop. Epilepsia Open. 2021 Jan 13;6(1):62-72.doi: 10.1002/epi4.12447. PMID: 33681649; PMCID: PMC7918329.
  • 3: Steel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. PMID: 28880996.
  • 4: Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. Epilepsia. 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126.
  • 5: Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19. PMID:
  • 6: Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021 Oct 2;144(9):2879-2891. doi: 10.1093/brain/awab162. PMID: 34687210; PMCID
  • 7: Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Erratum in: Ann Neurol. 2020 Apr;87(4):658. PMID: 31618474; PMCID: PMC7423163. 
  • 8: Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, SchorgeS, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, ZuberiSM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, HelbigI, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ,Dimidschstein J, Møller RS, Lal D. Biological concepts in human sodium channelepilepsies and their relevance in clinical practice. Epilepsia. 2020Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. PMID: 32090326. 
  • 9: Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, OlsonHE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2022 May;21(5):417-427. doi:10.1016/S1474-4422(22)00077-1. Erratum in: Lancet Neurol. 2022 Jul;21(7):e7. PMID: 35429480. 
  • 10: Brunklaus A. Advances in genotype-phenotype associations for CACNA1A-related epilepsies. Eur J Paediatr Neurol. 2021 Jul;33:A2. doi: 10.1016/j.ejpn.2021.07.001. Epub 2021 Jul 3. PMID: 34247929 
  • 11: López-Rivera JA, Pérez-Palma E, Symonds J, Lindy AS, McKnight DA, Leu C, Zuberi S, Brunklaus A, Møller RS, Lal D. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain. 2020 Apr 1;143(4):1099-1105. doi: 10.1093/brain/awaa051. PMID: 32168371; PMCID: 
  • 12: Symonds JD, Moloney TC, Lang B, McLellan A, O'Regan ME, MacLeod S, Jollands A, Vincent A, Kirkpatrick M, Brunklaus A, Shetty J, Dorris L, Forbes K, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Findlay C, Grattan R, MacDonnell J, McKnight J, Morrison CA, Nairn L, Pilley E, Stephen E, Thomsen S, Webb A, Wilson M, Zuberi SM. Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohort. Neurology. 2020 Sep 15;95(11):e1590-e1598. doi: 10.1212/WNL.0000000000010318. Epub 2020 Jul 20. PMID: 32690789. 
  • 13: Brunklaus A. No evidence that SCN9A variants are associated with epilepsy. Seizure. 2021 Oct;91:172-173. doi: 10.1016/j.seizure.2021.05.026. Epub 2021 Jun 23. PMID: 34171626. 
  • 14: Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. PMID: 35074891; PMCID: PMC8935441. 
  • 15: Brunklaus A. Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need. Eur J Paediatr Neurol. 2019 Jan;23(1):6. doi: 10.1016/j.ejpn.2018.12.009. PMID: 30642535. 
  • 16: Brunklaus A. Knowing when and how to use epilepsy screening questionnaires.Epilepsia. 2020 Apr;61(4):825. doi: 10.1111/epi.16462. Epub 2020 Mar 2. 
  • 17: Brunklaus A, Zuberi SM. Dravet syndrome--from epileptic encephalopathy to channelopathy. Epilepsia. 2014 Jul;55(7):979-84. doi: 10.1111/epi.12652. Epub 2014 May 16. PMID: 24836964. 
  • 18: Brunklaus A, Schorge S, Smith AD, Ghanty I, Stewart K, Gardiner S, Du J, Pérez-Palma E, Symonds JD, Collier AC, Lal D, Zuberi SM. SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Hum Mutat. 2020 Feb;41(2):363-374. doi: 10.1002/humu.23943. Epub 2019 Nov 28. PMID: 31782251. 
  • 19: Brunklaus A. Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification. Eur J Paediatr Neurol. 2020 Jan;24:7. doi: 10.1016/j.ejpn.2020.01.008. Epub 2020 Jan 10. PMID: 31980364. 
  • 20: Korff CM, Brunklaus A, Zuberi SM. Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome. Epilepsia. 2015 Oct;56(10):1477-81. doi: 10.1111/epi.13105. Epub 2015 Aug 21. PMID: 26293471. 
  • 21: Brunklaus A. Dravet syndrome - Time to consider the burden beyond the disease. Eur J Paediatr Neurol. 2019 May;23(3):344. doi: 10.1016/j.ejpn.2019.05.006. PMID: 31178017. 
  • 22: Lai YC, Muscal E, Wells E, Shukla N, Eschbach K, Hyeong Lee K, Kaliakatsos M, Desai N, Wickström R, Viri M, Freri E, Granata T, Nangia S, Dilena R, Brunklaus A, Wainwright MS, Gorman MP, Stredny CM, Asiri A, Hundallah K, Doja A, Payne E, Wirrell E, Koh S, Carpenter JL, Riviello J. Anakinra usage in febrile infection related epilepsy syndrome: an international cohort. Ann Clin Transl Neurol. 2020 Dec;7(12):2467-2474. doi: 10.1002/acn3.51229. Epub 2020 Dec 4. PMID: 33506622; PMCID: PMC7732241. 
  • 23: Brunklaus A, Leu C, Gramm M, Pérez-Palma E, Iqbal S, Lal D. Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur J Paediatr Neurol. 2020 Jan;24:35-39. doi: 10.1016/j.ejpn.2019.12.001. Epub 2019 Dec 17. PMID: 31924506. 
  • 24: Brunklaus A, Lal D. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application. Dev Med Child Neurol. 2020 Jul;62(7):784-792. doi: 10.1111/dmcn.14519. Epub 2020 Mar 30.  
  • 25: Brunklaus A, Ellis R, Reavey E, Semsarian C, Zuberi SM. Genotype phenotype associations across the voltage-gated sodium channel family. J Med Genet. 2014 Oct;51(10):650-8. doi: 10.1136/jmedgenet-2014-102608. Epub 2014 Aug 27. 
  • 26: Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P; Epi25 Collaborative, Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci Transl Med. 2020 Aug 12;12(556):eaay6848. doi: 10.1126/scitranslmed.aay6848. PMID: 32801145.
  • 27: Gittins S, Steel D, Brunklaus A, Newsom-Davis I, Hawkins C, Aylett SE. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. Epilepsy Behav. 2018 Nov;88:1-4. doi:10.1016/j.yebeh.2018.08.006. Epub 2018 Sep 6. PMID: 30195931.
  • 28: Jensen MP, Brunklaus A, Dorris L, Zuberi SM, Knupp KG, Galer BS, Gammaitoni AR. The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. Epilepsy Behav. 2017 May;70(Pt A):104-109. doi: 10.1016/j.yebeh.2017.02.003. Epub 2017 Apr 18. PMID: 28431364.
  • 29: Zuberi SM, Brunklaus A. Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nat Rev Neurol. 2018 Feb;14(2):67-68. doi:10.1038/nrneurol.2017.190. Epub 2018 Jan 19. PMID: 29348546.
  • 30: Brunklaus A, Pohl K, Zuberi SM, de Sousa C. Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome. Arch Dis Child. 2012 May;97(5):461-3.doi: 10.1136/adc.2010.204792. Epub 2011 Apr 3. PMID: 21460401.
  • 31: Brunklaus A, Pohl K, Zuberi SM, de Sousa C. Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life. Pediatrics. 2011 Aug;128(2):e388-94. doi: 10.1542/peds.2010-3114. Epub 2011 Jul 25. 
  • 32: Schildmann J, Brunklaus A, Herrmann E, Klambeck A, Ortwein H, Schwarz C. Evaluation of a 'breaking bad news' course at the Charité, Berlin. Med Educ. 2001 Aug;35(8):806-7. doi: 10.1046/j.1365-2923.2001.1014b.x. PMID: 11489113
  • 33: Michel TM, Frangou S, Thiemeyer D, Camara S, Jecel J, Nara K, Brunklaus A, Zoechling R, Riederer P. Evidence for oxidative stress in the frontal cortex in patients with recurrent depressive disorder--a postmortem study. Psychiatry Res. 2007 May 30;151(1-2):145-50. doi: 10.1016/j.psychres.2006.04.013. Epub 2007 Feb 12. PMID: 17296234
  • 34: Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E, Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S. Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain. 2022 Jan 17:awac006. doi: 10.1093/brain/awac006. Epub ahead of print. PMID: 35037686.
  • 35: Brunklaus A, Dorris L, Zuberi SM. Comorbidities and predictors of health-related quality of life in Dravet syndrome. Epilepsia. 2011 Aug;52(8):1476-82. doi: 10.1111/j.1528-1167.2011.03129.x. Epub 2011 Jun 10. PMID: 21668444. 
  • 36: Du J, Simmons S, Brunklaus A, Adiconis X, Hession CC, Fu Z, Li Y, Shema R, Møller RS, Barak B, Feng G, Meisler M, Sanders S, Lerche H, Campbell AJ, McCarroll S, Levin JZ, Lal D. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. Eur J Paediatr Neurol. 2020 Jan;24:129-133. doi:10.1016/j.ejpn.2019.12.019. Epub 2019 Dec 28. PMID: 3192890437: Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain. 2012 Aug;135(Pt 8):2329-36. doi: 10.1093/brain/aws151. Epub 2012 Jun 19. 
  • 38: Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol. 2013 Feb;55(2):154-61. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. PMID: 23163885. 
  • 39: Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022 Jun 13:awac210. doi: 10.1093/brain/awac210. Epub ahead of print. PMID: 35696452. 
  • 40: McTague A, Brunklaus A, Barcia G, Varadkar S, Zuberi SM, Chatron N, Parrini E, Mei D, Nabbout R, Lesca G. Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. Eur J Med Genet. 2022 Jul;65(7):104531. doi: 10.1016/j.ejmg.2022.104531. Epub 2022 May 23. PMID: 35618197
  • 41: Wickstrom R, Taraschenko O, Dilena R, Payne ET, Specchio N, Nabbout R, Koh S, Gaspard N, Hirsch LJ; International NORSE Consensus Group. International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) incl. Febrile Infection-Related Epilepsy Syndrome (FIRES): Statements and Supporting Evidence. Epilepsia. 2022 Aug 23. doi: 10.1111/epi.17397. Epub ahead of print. PMID: 35997591. 
  • 42: Sumpter R, Brunklaus A, McWilliam R, Dorris L. Health-related quality-of-life and behavioural outcome in survivors of childhood meningitis. Brain Inj. 2011;25(13-14):1288-95. doi: 10.3109/02699052.2011.613090. Epub 2011 Sep 30. Erratum in: Brain Inj. 2012;26(1):106. PMID: 21961570.
  • 43: Wickstrom R, Taraschenko O, Dilena R, Payne ET, Specchio N, Nabbout R, Koh S, Gaspard N, Hirsch LJ; International NORSE Consensus Group. International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools. Epilepsia. 2022 Aug 11. doi: 10.1111/epi.17391. Epub ahead of print. PMID: 35951466. 
  • 44: Brunklaus A, Parish E, Muntoni F, Scuplak S, Tucker SK, Fenton M, Hughes ML, Manzur AY. The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2015 Jul;19(4):395-401. doi: 10.1016/j.ejpn.2015.03.008. Epub 2015 Mar 24. PMID: 
  • 45: Brunklaus A, Dorris L, Zuberi SM. The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies. Dev Med Child Neurol. 2013 Oct;55(10):966-7. doi: 10.1111/dmcn.12192. Epub 2013 Jun 3. PMID: 23725490. 
  • 46: Alshaikh N, Brunklaus A, Davis T, Robb SA, Quinlivan R, Munot P, Sarkozy A, Muntoni F, Manzur AY; Dubowitz Neuromuscular Team. Vitamin D in corticosteroid- naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? Arch Dis Child. 2016 Oct;101(10):957-61. doi: 10.1136/archdischild-2015-308825. Epub 2016 May 31. PMID: 27246070.  
  • 47: Brunklaus A, Ellis R, Stewart H, Aylett S, Reavey E, Jefferson R, Jain R, Chakraborty S, Jayawant S, Zuberi SM. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. Eur J Paediatr Neurol. 2015 Jul;19(4):484-8. doi: 10.1016/j.ejpn.2015.02.001. Epub 2015 Feb 21. PMID: 25795284. 
  • 48: Brünger T, Pérez-Palma E, Montanucci L, Nothnagel M, Møller RS, Schorge S, Zuberi S, Symonds J, Lemke JR, Brunklaus A, Traynelis SF, May P, Lal D. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain. 2022 Aug 29:awac305. doi: 10.1093/brain/awac305. Epub ahead of print. PMID: 36036558

 

Book Chapters:

  • Brunklaus A, Vlaskamp D, Jansen F (2022): Genetic Encephalopathies with Epilepsy as a Main Feature. In Epilepsy: A Comprehensive Textbook, Pete Engel and Nico Moshe (editors), Wolters Kluwer (in press)
  • Brunklaus A (2022): Dravet syndrome, Medlink Neurology (https://www.medlink.com/)
  • Bahi-Buisson N, Brunklaus A, Nabbout R (2021): Rett syndrome, Orphanet (ORPHA:778)
  • Zuberi SM, Brunklaus A (2017): Epilepsy and Cerebral Palsy. In The Causes of Epilepsy, Shorvon, Guerrini & Andermann (editors), Cambridge University Press
  • Brunklaus A (2017): Incidence of Dravet Syndrome in a US Population. Year book of Pediatrics 2017, Elsevier Mosby, 332-334

Grants & Clinical Trials

Grants

  • SCN1A Horizons - A natural history study of SCN1A-related epilepsies in the United Kingdom (2022)
  • Ring Chromosome 20 natural history and biomarker study (2021)
  • Research Development Grant (2019)
  • NRS Research Fellowship (2017)
  • Muir Maxwell Trust research fellowship (2008)

 

Clinical trials

  • SCN1A Horizons - A natural history study of SCN1A-related epilepsies in the United Kingdom (CI, 2022-2026)
  • An Open-Label Extension Study for Patients with Dravet Syndrome who Previously Participated in Studies of Multiple Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents with Dravet Syndrome (CI, 2022-2024)
  • An Open-Label Study to Investigate the Safety and Pharmacokinetics of Multiple Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents with Dravet Syndrome (PI, 2021-2023)
  • ENVISION: Natural History Study of Infants and Children with SCN1A-positive Dravet Syndrome (PI, 2021-2023)
  • The Ketogenic Diet in Infants with Epilepsy (KIWE) trial (PI, 2019-2022)
  • Adjunctive Ganaxolone Treatment in Children and Young Adults with CDKL5 Deficiency Disorder (PI, 2018-2022)
  • Add-on Therapy with Low Dose Fenfluramine in Lennox Gastaut Epilepsy (Sub-PI, 2016-2022)
  • UMSCOM: Multinational European Trial for Children with the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome (Sub-PI, 2013-2022)

Prizes, Awards & Distinctions

  • 2021 American Epilepsy Society, Grass Young Investigator Award (Declan Gallagher)
  • 2021 Barber's Prize, University of Glasgow (Jacob Williams)
  • 2021 British Paediatric Neurology Association, Best Platform Presentation (Tony Feng)
  • 2020 American Epilepsy Society, Young Investigator Award (Felix Steckler)
  • 2020 Best in year BMedSci Neurology, University of Glasgow (Tony Feng)
  • 2018 Glasgow Paediatric Research Day, Best Platform Presentation (Ismael Ghanty)
  • 2017 NHS Research Scotland (NRS) Career Researcher Fellowship
  • 2013 Mac Keith Prize – British Paediatric Neurology Association
  • 2012 International League Against Epilepsy (ILAE) Travel Bursary Award
  • 2011 Faculty of 1000 Medicine award
  • 2011 Guarantors of Brain Travelling Scholarship
  • 2010 Scientific Networking Award – University of Glasgow
  • 2009 Guarantors of Brain Travelling Scholarship
  • 2001 Oscar-Kuhn-Prize (German award in medical communication skills)

Supervision

  • Ismael Ghanty (BSc student): “A novel pathogenicity modelling score in SCN1A-related epilepsies” (2017/2018)
  • Ben Dunwoody (BSc student): “Neurocognitive outcomes in Sodium Channel Epilepsy – A model disease to study genetic neurodevelopmental disorders” (2018/2019)
  • Tony Feng (BSc student): “Gene variant effects across sodium channelopathies predict function and guide precision therapy” (2019/2020)
  • Declan Gallagher (BSc student): “Genotype-phenotype associations in a large cohort of SCN1A-related epilepsies” (2020/2021)

Grant committees & research advisory boards

  • Lead Clinician, Scottish Paediatric Epilepsy Network (SPEN)
  • Co-chair International League Against Epilepsy (ILAE) Task Force on Clinical Genetic Testing
  • Editorial board member of the European Journal of Paediatric Neurology
  • Genetic Research Committee Member, European Reference Network EpiCARE
  • Research committee member British Paediatric Neurology Association
  • Medical advisory board member Dravet syndrome UK (DSUK)
  • Medical advisory board member Glut1 Deficiency UK
  • Paediatric Epilepsy Training (PET) Regional Co-ordinator for Scotland

Professional & Learned societies

  • Royal College of Paediatrics and Child Health (RCPCH)
  • Scottish Paediatric Society (SPS)
  • British Paediatric Neurology Association (BPNA)
  • European Paediatric Neurology Society (EPNS)
  • International Child Neurology Association (ICNA)
  • American Epilepsy Society (AES)
  • International League Against Epilepsy (ILAE)
  • British Medical Association (BMA)