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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia. 2020 Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23.
Epilepsia. 2020.
PMID: 32090326
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.
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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D.
Brunklaus A, et al.
Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24.
Neurology. 2022.
PMID: 35074891
Free PMC article.
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