Publications

  • Djémié, Tania, et al. “Pitfalls in genetic testing: the story of missed SCN1A mutations.” Molecular Genetics & Genomic Medicine (2016).
  • Leu, Costin, et al. “Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy.” EBioMedicine 2.9 (2015): 1063-1070.
  • Becker, Felicitas, et al. “Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?.” Epilepsy research 114 (2015): 47-51.
  • Hallmann, Kerstin, et al. “Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.” Brain (2015): awv357.
  • Hallmann, Kerstin, et al. “A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.” Neurology 83.23 (2014): 2183-2187.
  • Consortium, The International League Against Epilepsy. “Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.” The Lancet. Neurology 13.9 (2014): 893.
  • Kasperavičiūtė, Dalia, et al. “Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.” Brain 136.10 (2013): 3140-3150.
  • Cavalleri, Gianpiero L., and Norman Delanty. “3 Opportunities and Challenges for Genome Sequencing in the Clinic.” Advances in Protein Chemistry and Structural Biology 89 (2012): 65.