Publications

Journal Articles

  1. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 16(2), 135-143.
  2. & Stem cell treatment for multiple sclerosis. Journal of Neurology 263(10), 2145-2147.
  3. et. al. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics 99(2), 287-298.
  4. & Epilepsy and deprivation, a data linkage study. Epilepsia 56(4), 585-591.
  5. & Shared decision-making in epilepsy management. Epilepsy & Behavior
  6. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine 2(9), 1063-1070.
  7. & Epilepsy prevalence and socioeconomic deprivation in England. Epilepsia 55(10), 1634-1641.
  8. & Treatment of resistant epilepsy. Clinical Medicine 14(Suppl_6), s1-s6.
  9. & A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease 64, 131-141.
  10. & Human African Trypanosomiasis Presenting at Least 29 Years after Infection—What Can This Teach Us about the Pathogenesis and Control of This Neglected Tropical Disease?. PLoS Neglected Tropical Diseases 8(12), e3349
  11. New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms. Journal of Biological Chemistry 288(47), 33745-33759.
  12. & Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010. Seizure
  13. & Peripheral neuropathy—lead astray?. The Lancet 381(9872), 1156-1156.
  14. & GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics 22(5), 927-940.
  15. & Weight change associated with antiepileptic drugs. Journal of Neurology, Neurosurgery & Psychiatry 84(7), 796-799.

Book Chapters

  1. & Next Generation Sequencing Methodologies - An Overview. In Challenges and Opportunities of Next-Generation Sequencing for Biomedical Research. (pp. 1-26).