{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Que Z"],"funding":["HHS | National Institutes of Health","Fulbright-Colciencias scholarship","Purdue Big Idea Challenge 2.0 on Autism","FamilieSCN2A foundation","NCATS NIH HHS","NIEHS NIH HHS","NIAID NIH HHS","Indiana Clinical and Translational Sciences Institute","NINDS NIH HHS","NCI NIH HHS","National Science Foundation (NSF) Graduate Research Fellowship Program","Ralph W. and Grace M. Showalter Research Trust Fund"],"pagination":["10194-10208"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8660047"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(49)"],"pubmed_abstract":["With the wide adoption of genomic sequencing in children having seizures, an increasing number of <i>SCN2A</i> genetic variants have been revealed as genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene <i>SCN2A</i>, is predominantly expressed in the pyramidal excitatory neurons and supports action potential (AP) firing. One recurrent <i>SCN2A</i> genetic variant is L1342P, which was identified in multiple patients with epileptic encephalopathy and intractable seizures. However, the mechanism underlying L1342P-mediated seizures and the pharmacogenetics of this variant in human neurons remain unknown. To understand the core phenotypes of the L1342P variant in human neurons, we took advantage of a reference human-induced pluripotent stem cell (hiPSC) line from a m"],"journal":["The Journal of neuroscience : the official journal of the Society for Neuroscience"],"pubmed_title":["Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant."],"pmcid":["PMC8660047"],"funding_grant_id":["R01 NS117585","R01 AI150847","R03 NS108229","Action Potential Grant","DGE-1842166","R01 CA212403","R01 ES031401","R01 NS123154","UL1 TR002529"],"pubmed_authors":["Wu J","Skarnes WC","Shafer JM","Zhang J","Bowman AB","Trader DJ","Wettschurack K","Schaber JA","Tukker AM","Xiao T","Eaton M","Yuan C","Yang Y","Huang Z","Que Z","Olivero-Acosta MI","Xie J","Hu CD","Yunis L","Chen X","Rochet JC"],"additional_accession":[]},"is_claimable":false,"name":"Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.","description":"With the wide adoption of genomic sequencing in children having seizures, an increasing number of <i>SCN2A</i> genetic variants have been revealed as genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene <i>SCN2A</i>, is predominantly expressed in the pyramidal excitatory neurons and supports action potential (AP) firing. One recurrent <i>SCN2A</i> genetic variant is L1342P, which was identified in multiple patients with epileptic encephalopathy and intractable seizures. However, the mechanism underlying L1342P-mediated seizures and the pharmacogenetics of this variant in human neurons remain unknown. To understand the core phenotypes of the L1342P variant in human neurons, we took advantage of a reference human-induced pluripotent stem cell (hiPSC) line from a m","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2025-04-22T05:52:20.795Z","creation":"2025-04-05T21:27:47.101Z"},"accession":"S-EPMC8660047","cross_references":{"pubmed":["34716231"],"doi":["10.1523/JNEUROSCI.0564-21.2021","10.1523/jneurosci.0564-21.2021"]}}