Brunklaus, Andreas

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Symonds, J. D., Zuberi, S. M., Stewart, K., McLellan, A., O‘Regan, M., MacLeod, S., Jollands, A., Joss, S., Kirkpatrick, M., Brunklaus, A., et al. (2019) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 459

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

Brunklaus, A., Ellis, R., Reavey, E., Forbes, G. H., & Zuberi, S. M. (2012) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 366

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

Symonds, J. D., Elliott, K. S., Shetty, J., Armstrong, M., Brunklaus, A., Cutcutache, I., Diver, L. A., Dorris, L., Gardiner, S., Jollands, A., et al. (2021) · Brain

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 269

Evidence for oxidative stress in the frontal cortex in patients with recurrent depressive disorder—A postmortem study

Michel, T. M., Frangou, S., Thiemeyer, D., Camara, S., Jecel, J., Nara, K., Brunklaus, A., Zoechling, R., & Riederer, P. (2007) · Psychiatry Research

Treatment of Major DepressionTryptophan and brain disorders

Cited by 218

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M.-A., Symonds, J., Andrew, J., Arzimanoglou, A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 167

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Knight, E. M. P., Amin, S., Bahi-Buisson, N., Benke, T. A., Cross, J. H., Demarest, S. T., Olson, H. E., Specchio, N., Fleming, T. R., Aimetti, A. A., et al. (2022) · The Lancet Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 160

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 140

Comorbidities and predictors of health‐related quality of life in Dravet syndrome

Brunklaus, A., Dorris, L., & Zuberi, S. M. (2011) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 123

Phenotypic spectrum and genetics of SCN 2A ‐related disorders, treatment options, and outcomes in epilepsy and beyond

Wolff, M., Brunklaus, A., & Zuberi, S. M. (2019) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 105

Genotype phenotype associations across the voltage-gated sodium channel family

Brunklaus, A., Ellis, R., Reavey, E., Semsarian, C., & Zuberi, S. M. (2014) · Journal of Medical Genetics

Ion channel regulation and functionCardiac electrophysiology and arrhythmias

Cited by 92

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L., & Brunklaus, A. (2023) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 26

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS )

Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., LaCroix, A. J., Antony, J., Webster, R., Cardamone, M., et al. (2024) · Annals of Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23