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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. 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
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. Among authors: du j. Epilepsia. 2020 Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. Epilepsia. 2020. PMID: 32090326
Identification of pathogenic variant enriched regions across genes and gene families.
Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D. Pérez-Palma E, et al. Among authors: du j. Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. Epub 2019 Dec 23. Genome Res. 2020. PMID: 31871067 Free PMC article.
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