2022

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)

Iqbal, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (2022) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, (doi: 10.1093/brain/awac381) (PMID:36256779) (Early Online Publication)

Brünger, T. et al. (2022) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, (doi: 10.1093/brain/awac305) (PMID:36036558) (Early Online Publication)

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)

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, (doi: 10.1093/brain/awac006) (PMID:35037686) (Early Online Publication)

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

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)

Iqbal, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (2022) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, (doi: 10.1093/brain/awac381) (PMID:36256779) (Early Online Publication)

Brünger, T. et al. (2022) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, (doi: 10.1093/brain/awac305) (PMID:36036558) (Early Online Publication)

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)

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, (doi: 10.1093/brain/awac006) (PMID:35037686) (Early Online Publication)

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)