| 2025 |
Ricos, M. G., Cole, B. A., Hussain, R., Rychkov, G. Y., Shaukat, Z., Pilati, N., . . . Lippiat, J. D. (2025). Identification of new KCNT1-epilepsy drugs by In silico, cell, and drosophila modeling. Annals Of Neurology, online(6), 1-14.
DOI |
| 2024 |
Hussain, R., Lim, C. X., Shaukat, Z., Islam, A., Caseley, E. A., Lippiat, J. D., . . . Dibbens, L. M. (2024). Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy. Scientific Reports, 14(1, article no. 3357), 3357-1-3357-12.
DOI Scopus8 WoS8 Europe PMC8 |
| 2024 |
Islam, A., Shaukat, Z., Hussain, R., Ricos, M. G., Dibbens, L. M., & Gregory, S. L. (2024). Aneuploidy is linked to neurological phenotypes through oxidative stress. Journal of Molecular Neuroscience, 74(2, article no. 50), 1-11.
DOI Scopus1 WoS1 |
| 2024 |
Saidin, A., Cherepnalkovski, A. P., Shaukat, Z., Arsov, T., Hussain, R., Roberts, B. J., . . . Dibbens, L. M. (2024). A novel pathogenic TUBA1A variant in a Croatian infant is linked to a severe tubulinopathy with Walker-Warburg-like features. Genes, 15(8), 1-11.
DOI |
| 2023 |
Islam, A., Shaukat, Z., Newman, D. L., Hussain, R., Ricos, M. G., Dibbens, L., & Gregory, S. L. (2023). Chromosomal instability causes sensitivity to polyamines and one-carbon metabolism. Metabolites, 13(5, article no. 642), 1-14.
DOI Scopus2 WoS3 Europe PMC6 |
| 2022 |
Shaukat, Z., Byard, R. W., Vink, R., Hussain, R., Ricos, M. G., & Dibbens, L. M. (2022). Investigating genetic variants in microRNA regulators of Neurokinin-1 receptor in sudden infant death syndrome. Acta Paediatrica, 112(2), 4 pages.
DOI Scopus1 Europe PMC1 |
| 2022 |
Rychkov, G. Y., Shaukat, Z., Lim, C. X., Hussain, R., Roberts, B. J., Bonardi, C. M., . . . Dibbens, L. M. (2022). Functional effects of Epilepsy associated KCNT1 mutations suggest pathogenesis via aberrant inhibitory neuronal activity. International Journal of Molecular Sciences, 23(23, article no. 15133), 1-14.
DOI Scopus12 WoS9 Europe PMC12 |
| 2017 |
Hughes, J., Dawson, R., Tea, M., McAninch, D., Piltz, S., Jackson, D., . . . Thomas, P. (2017). Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. Scientific Reports, 7(1), 12618-1-12618-15.
DOI Scopus51 WoS47 Europe PMC45 |
| 2016 |
Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., . . . Dibbens, L. M. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131.
DOI Scopus200 WoS181 Europe PMC159 |
| 2016 |
Lim, C., Ricos, M., Dibbens, L., & Heron, S. (2016). KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. Journal of Medical Genetics, 53(4), 217-225.
DOI Scopus96 WoS85 Europe PMC79 |
| 2015 |
Møller, R., Heron, S., Larsen, L., Lim, C., Ricos, M., Bayly, M., . . . Dibbens, L. (2015). Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia, 56(9), e114-e120.
DOI Scopus135 WoS125 Europe PMC110 |
| 2014 |
Scheffer, I., Heron, S., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Dibbens, L. (2014). Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology, 75(5), 782-787.
DOI Scopus208 WoS187 Europe PMC159 |
