Brunklaus A - Search Results

1

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.

Du J, Simmons S, Brunklaus A, Adiconis X, Hession CC, Fu Z, Li Y, Shema R, Møller RS, Barak B, Feng G, Meisler M, Sanders S, Lerche H, Campbell AJ, McCarroll S, Levin JZ, Lal D. Du J, et al. Among authors: brunklaus a. Eur J Paediatr Neurol. 2020 Jan;24:129-133. doi: 10.1016/j.ejpn.2019.12.019. Epub 2019 Dec 28. Eur J Paediatr Neurol. 2020. PMID: 31928904

2

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

Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Brunklaus A, et al. Brain. 2012 Aug;135(Pt 8):2329-36. doi: 10.1093/brain/aws151. Epub 2012 Jun 19. Brain. 2012. PMID: 22719002

3

Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus A, Ellis R, Reavey E, Semsarian C, Zuberi SM. Brunklaus A, et al. J Med Genet. 2014 Oct;51(10):650-8. doi: 10.1136/jmedgenet-2014-102608. Epub 2014 Aug 27. J Med Genet. 2014. PMID: 25163687 Review.

4

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

Brunklaus A, Ellis R, Stewart H, Aylett S, Reavey E, Jefferson R, Jain R, Chakraborty S, Jayawant S, Zuberi SM. Brunklaus A, et al. Eur J Paediatr Neurol. 2015 Jul;19(4):484-8. doi: 10.1016/j.ejpn.2015.02.001. Epub 2015 Feb 21. Eur J Paediatr Neurol. 2015. PMID: 25795284

5

Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need.

Brunklaus A. Brunklaus A. Eur J Paediatr Neurol. 2019 Jan;23(1):6. doi: 10.1016/j.ejpn.2018.12.009. Eur J Paediatr Neurol. 2019. PMID: 30642535 No abstract available.

6

Dravet syndrome - Time to consider the burden beyond the disease.

Brunklaus A. Brunklaus A. Eur J Paediatr Neurol. 2019 May;23(3):344. doi: 10.1016/j.ejpn.2019.05.006. Eur J Paediatr Neurol. 2019. PMID: 31178017 No abstract available.

7

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A, Schorge S, Smith AD, Ghanty I, Stewart K, Gardiner S, Du J, Pérez-Palma E, Symonds JD, Collier AC, Lal D, Zuberi SM. Brunklaus A, et al. Hum Mutat. 2020 Feb;41(2):363-374. doi: 10.1002/humu.23943. Epub 2019 Nov 28. Hum Mutat. 2020. PMID: 31782251 Review.

8

Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies.

Brunklaus A, Leu C, Gramm M, Pérez-Palma E, Iqbal S, Lal D. Brunklaus A, et al. Eur J Paediatr Neurol. 2020 Jan;24:35-39. doi: 10.1016/j.ejpn.2019.12.001. Epub 2019 Dec 17. Eur J Paediatr Neurol. 2020. PMID: 31924506 Review.

9

Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification.

Brunklaus A. Brunklaus A. Eur J Paediatr Neurol. 2020 Jan;24:7. doi: 10.1016/j.ejpn.2020.01.008. Epub 2020 Jan 10. Eur J Paediatr Neurol. 2020. PMID: 31980364 No abstract available.

10

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. Brunklaus A, et al. Epilepsia. 2020 Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. Epilepsia. 2020. PMID: 32090326

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