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An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2.
Ovchinnikov DA, Jong S, Cuddy C, Dalby K, Devinsky O, Mullen S, Maljevic S, Petrou S. Ovchinnikov DA, et al. Among authors: petrou s. Stem Cell Res. 2024 Apr;76:103367. doi: 10.1016/j.scr.2024.103367. Epub 2024 Feb 28. Stem Cell Res. 2024. PMID: 38479087 Free article.
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: petrou s. 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: petrou s. 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.
745 results