Fingerprint Fingerprint is based on mining the text of the persons 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
Epilepsy Medicine & Life Sciences
Seizures Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences

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Research Output 2008 2016

  • 1745 Citations
  • 24 Article
  • 1 Chapter
  • 1 Review article
5 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: Contribution to journalArticle

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: Contribution to journalArticle

Intellectual Disability
Drosophila
Learning
Mutation
Histones
15 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: Contribution to journalArticle

Mutation
Genes
Exome
Mosaicism
Genetic Heterogeneity
2 Citations

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Corbett, M. A., Bellows, S. T., Li, M., Carroll, R., Micallef, S., Carvill, G. L., Myers, C. T., Howell, K. B., Maljevic, S., Lerche, H., Gazina, E. V., Mefford, H. C., Bahlo, M., Berkovic, S. F., Petrou, S., Scheffer, I. E. & Gecz, J. Nov 8 2016 In : Neurology. 87, 19, p. 1975-1984 10 p.

Research output: Contribution to journalArticle

Ataxia
Epilepsy
Mutation
Seizures
Generalized Epilepsy
2 Citations

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Rudolf, G. , Lesca, G. , Mehrjouy, M. M. , Labalme, A. , Salmi, M. , Bache, I. , Bruneau, N. , Pendziwiat, M. , Fluss, J. , De Bellescize, J. , Scholly, J. , Møller, R. S. , Craiu, D. , Tommerup, N. , Valenti-Hirsch, M. P. , Schluth-Bolard, C. , Sloan-Béna, F. , Helbig, K. L. , Weckhuysen, S. , Edery, P. & 21 others Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H. M., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P. Dec 1 2016 In : European Journal of Human Genetics. 24, 12, p. 1761-1770 10 p.

Research output: Contribution to journalArticle

Generalized Epilepsy
Retinoids
Cytoplasmic and Nuclear Receptors
Epilepsy
Genes