2023

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, (doi: 10.1111/epi.17531) (PMID:36740581) (Early Online Publication)

Iqbal, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (2023) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146(2), pp. 519-533. (doi: 10.1093/brain/awac381) (PMID:36256779) (PMCID:PMC9924913)

2022

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

2021

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

2020

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

Brunklaus, A. (2020) Knowing when and how to use epilepsy screening questionnaires. Epilepsia, 61(4), p. 825. (doi: 10.1111/epi.16462) (PMID:32115692)

2019

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

2018

Zuberi, S. M. and Brunklaus, A. (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)

2017

Steel, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Articles

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, (doi: 10.1111/epi.17531) (PMID:36740581) (Early Online Publication)

Iqbal, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (2023) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146(2), pp. 519-533. (doi: 10.1093/brain/awac381) (PMID:36256779) (PMCID:PMC9924913)

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

Brunklaus, A. (2020) Knowing when and how to use epilepsy screening questionnaires. Epilepsia, 61(4), p. 825. (doi: 10.1111/epi.16462) (PMID:32115692)

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

Zuberi, S. M. and Brunklaus, A. (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Steel, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Conference or Workshop Item

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)