Article

Sodium channel Nav1.2-L1342P variant displaying complex biophysical properties renders hyperexcitability of cortical neurons derived from human iPSCs

2021-01-19

Abstract excerpt

With the wide adoption of whole-exome sequencing in children having seizures, an increasing number of SCN2A variants has been revealed as possible genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene SCN2A , is strongly expressed in the pyramidal excitatory neurons and supports action potential firing. One recurrent SCN2A variant is L1342P, which was identified in multiple patients w...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 25443f69-40a4-5fcc-b83b-35fdeddc7240
DOI: 10.1101/2021.01.18.427192

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Sodium channel Nav1.2-L1342P variant displaying complex biophysical properties renders hyperexcitability of cortical neurons derived from human iPSCsDOI 10.1101/2021.01.18.427192Read

Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.Semantic proximity Read

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.Semantic proximity Read

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical OrganoidsSemantic proximity Read

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A -Related DisordersSemantic proximity Read

Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathySemantic proximity Read

Variant-specific changes in persistent or resurgent Na + current in SCN8A -EIEE13 iPSC-derived neuronsSemantic proximity Read

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.Semantic proximity Read

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutationSemantic proximity Read

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.Semantic proximity Read

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.Semantic proximity Read

Impaired M-current in KCNQ2 Encephalopathy Evokes Dyshomeostatic Modulation of ExcitabilitySemantic proximity Read