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SCN1A gain of function in early infantile encephalopathy.
Berecki G, Bryson A, Terhag J, Maljevic S, Gazina EV, Hill SL, Petrou S. Berecki G, et al. Ann Neurol. 2019 Apr;85(4):514-525. doi: 10.1002/ana.25438. Epub 2019 Mar 7. Ann Neurol. 2019. PMID: 30779207
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G, Howell KB, Heighway J, Olivier N, Rodda J, Overmars I, Vlaskamp DRM, Ware TL, Ardern-Holmes S, Lesca G, Alber M, Veggiotti P, Scheffer IE, Berkovic SF, Wolff M, Petrou S. Berecki G, et al. Commun Biol. 2022 May 30;5(1):515. doi: 10.1038/s42003-022-03454-1. Commun Biol. 2022. PMID: 35637276 Free PMC article.
Corrigendum to "Biophysical analysis of an HCN1 epilepsy variant suggests a critical role for S5 helix Met-305 in voltage sensor to pore domain coupling" [Prog. Biophys. Mol. Biol. 166 (2021) 156-172].
Hung A, Forster IC, Mckenzie CE, Berecki G, Petrou S, Kathirvel A, Soh MS, Reid CA. Hung A, et al. Among authors: berecki g. Prog Biophys Mol Biol. 2022 Aug;172:90. doi: 10.1016/j.pbiomolbio.2022.05.003. Epub 2022 May 21. Prog Biophys Mol Biol. 2022. PMID: 35606165 No abstract available.
The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm.
Koopman CD, De Angelis J, Iyer SP, Verkerk AO, Da Silva J, Berecki G, Jeanes A, Baillie GJ, Paterson S, Uribe V, Ehrlich OV, Robinson SD, Garric L, Petrou S, Simons C, Vetter I, Hogan BM, de Boer TP, Bakkers J, Smith KA. Koopman CD, et al. Among authors: berecki g. Proc Natl Acad Sci U S A. 2021 Mar 2;118(9):e2018220118. doi: 10.1073/pnas.2018220118. Proc Natl Acad Sci U S A. 2021. PMID: 33597309 Free PMC article.
45 results