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Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S. Mao M, et al. Among authors: berecki g. J Neurosci. 2024 Feb 21;44(8):e0692232023. doi: 10.1523/JNEUROSCI.0692-23.2023. J Neurosci. 2024. PMID: 38148154 Free PMC article.
Carbogen-Induced Respiratory Acidosis Blocks Experimental Seizures by a Direct and Specific Inhibition of NaV1.2 Channels in the Axon Initial Segment of Pyramidal Neurons.
Hatch RJ, Berecki G, Jancovski N, Li M, Rollo B, Jafar-Nejad P, Rigo F, Kaila K, Reid CA, Petrou S. Hatch RJ, et al. Among authors: berecki g. J Neurosci. 2023 Mar 8;43(10):1658-1667. doi: 10.1523/JNEUROSCI.1387-22.2022. Epub 2023 Feb 2. J Neurosci. 2023. PMID: 36732074 Free PMC article.
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.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: berecki g. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
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