Rubboli, Guido

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

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

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Hedrich, U. B. S., Lauxmann, S., Wolff, M., Synofzik, M., Bast, T., Binelli, A., Serratosa, J. M., Martínez-Ulloa, P., Allen, N. M., King, M. D., et al. (2021) · Science Translational Medicine

Ion channel regulation and functionEpilepsy research and treatment

Cited by 87

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 53

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Mohammadi, N. A., Ahring, P. K., Yu Liao, V. W., Chua, H. C., Ortiz de la Rosa, S., Johannesen, K. M., Michaeli-Yossef, Y., Vincent-Devulder, A., Meridda, C., Bruel, A.-L., et al. (2024) · eBioMedicine

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 27

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties

Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., et al. (2023) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 23

Spectrum of NMDA receptor variants in neurodevelopmental disorders and epilepsy

Gjerulfsen, C. E., Krey, I., Klöckner, C., Rubboli, G., Lemke, J. R., & Møller, R. S. (2024) · Methods in Molecular Biology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 11