Personal profile

Training Experience

2016Postdoctoral Fellowship, University of Washington

Keywords

  • Gene Regulation
  • Stem Cells
  • Neurogenetics
  • Epilepsy
  • Epigenetics
  • Genetics

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Seizures Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 2008 2017

  • 1915 Citations
  • 26 Article
  • 1 Chapter
  • 1 Review article

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., Devile, C., Kurian, M. A., Mandelstam, S., Wirrell, E., Nickels, K. C., Murali, H. R., Carvill, G., Myers, C. T., Mefford, H. C. & Scheffer, I. E. Sep 5 2017 In : Neurology. 89, 10, p. 1035-1042 8 p.

Research output: Research - peer-reviewArticle

Myoclonic Epilepsy
Brain Diseases
Movement Disorders
Missense Mutation
Seizures

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Carvill, G. L., Liu, A., Mandelstam, S., Schneider, A., Lacroix, A., Zemel, M., Mcmahon, J. M., Bello-Espinosa, L., Mackay, M., Wallace, G., Waak, M., Zhang, J., Yang, X., Malone, S., Zhang, Y. H., Mefford, H. C. & Scheffer, I. E. Jan 1 2017 (Accepted/In press) In : Epilepsia.

Research output: Research - peer-reviewArticle

Autophagy
Brain Diseases
Seizures
Mutation
Genes
7 Citations

A targeted resequencing gene panel for focal epilepsy

Hildebrand, M. S., Myers, C. T., Carvill, G. L., Regan, B. M., Damiano, J. A., Mullen, S. A., Newton, M. R., Nair, U., Gazina, E. V., Milligan, C. J., Reid, C. A., Petrou, S., Scheffer, I. E., Berkovic, S. F. & Mefford, H. C. Apr 26 2016 In : Neurology. 86, 17, p. 1605-1612 8 p.

Research output: Research - peer-reviewArticle

Partial Epilepsy
Genes
Molecular Probes
Epilepsy
Technology
2 Citations

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Lugtenberg, D. , Reijnders, M. R. F. , Fenckova, M. , Bijlsma, E. K. , Bernier, R. , Van Bon, B. W. M. , Smeets, E. , Vulto-van Silfhout, A. T. , Bosch, D. , Eichler, E. E. , Mefford, H. C. , Carvill, G. L. , Bongers, E. M. H. F. , Schuurs-Hoeijmakers, J. H. M. , Ruivenkamp, C. A. , Santen, G. W. E. , Van Den Maagdenberg, A. M. J. M. , Peeters-Scholte, C. M. P. C. D. , Kuenen, S. , Verstreken, P. & 10 others Pfundt, R., Yntema, H. G., De Vries, P. F., Veltman, J. A., Hoischen, A., Gilissen, C., De Vries, B. B. A., Schenck, A., Kleefstra, T. & Vissers, L. E. L. M. Aug 1 2016 In : European Journal of Human Genetics. 24, 8, p. 1145-1153 9 p.

Research output: Research - peer-reviewArticle

Intellectual Disability
Drosophila
Learning
Mutation
Genes
26 Citations

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T. , McMahon, J. M. , Schneider, A. L. , Petrovski, S. , Allen, A. S. , Carvill, G. L. , Zemel, M. , Saykally, J. E. , LaCroix, A. J. , Heinzen, E. L. , Hollingsworth, G. , Nikanorova, M. , Corbett, M. , Gecz, J. , Coman, D. , Freeman, J. , Calvert, S. , Gill, D. , Carney, P. , Lerman-Sagie, T. & 25 others Sampaio, H., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Johnson, M. R., Kuzniecky, R., Marson, A. G., O'Brien, T. J., Ottman, R., Petrou, S., Poduri, A., Pickrell, W. O., Chung, S. K., Rees, M. I., Sherr, E., Sadleir, L. G., Goldstein, D. B., Lowenstein, D. H., Møller, R. S., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C. Aug 4 2016 In : American Journal of Human Genetics. 99, 2, p. 287-298 12 p.

Research output: Research - peer-reviewArticle

Brain Diseases
Mutation
Genes
Exome
Mosaicism