Dibbens, Leanne M.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Heron, S. E., Smith, K. R., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., Crompton, D. E., Hughes, J. N., Bellows, S. T., Klein, K. M., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 373

SCN1A mutations and epilepsy

Mulley, J. C., Scheffer, I. E., Petrou, S., Dibbens, L. M., Berkovic, S. F., & Harkin, L. A. (2005) · Human Mutation

Epilepsy research and treatmentIon channel regulation and function

Cited by 351

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., Licchetta, L., Bisulli, F., Bayly, M. A., Hughes, J., et al. (2016) · Annals of Neurology

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 246

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E., & Mefford, H. C. (2013) · Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 188

Genetic epilepsy with febrile seizures plus: Refining the spectrum

Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 139

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., et al. (2015) · Neurology Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

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