Mulley, John C.

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Steinlein, O. K., Mulley, J. C., Propping, P., Wallace, R. H., Phillips, H. A., Sutherland, G. R., Scheffer, I. E., & Berkovic, S. F. (1995) · Nature Genetics

Epilepsy research and treatmentNicotinic Acetylcholine Receptors Study

Cited by 1,134

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., et al. (1998) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 996

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L. R. F., Deprez, L., Smets, K., Hristova, D., Yordanova, I., et al. (2012) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 514

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

Channelopathies as a genetic cause of epilepsy

Mulley, J. C., Scheffer, I. E., Petrou, S., & Berkovic, S. F. (2003) · Current Opinion in Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 214

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 176

How Mutations in the nAChRs Can Cause ADNFLE Epilepsy

Bertrand, D., Picard, F., Le Hellard, S., Weiland, S., Favre, I., Phillips, H., Bertrand, S., Berkovic, S. F., Malafosse, A., & Mulley, J. (2002) · Epilepsia

Nicotinic Acetylcholine Receptors StudyEpilepsy research and treatment

Cited by 173

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

Bhalla, K., Phillips, H. A., Crawford, J., McKenzie, O. L. D., Mulley, J. C., Eyre, H., Gardner, A. E., Kremmidiotis, G., & Callen, D. F. (2004) · Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 146

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

Xu, R., Thomas, E. A., Jenkins, M., Gazina, E. V., Chiu, C., Heron, S. E., Mulley, J. C., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2007) · Molecular and Cellular Neuroscience

Ion channel regulation and functionEpilepsy research and treatment

Cited by 84