Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene-Reference-Cited by-同舟云学术

Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

Published:2023-09 Issue: Volume:71 Page:103179
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Ovchinnikov D.A.^ORCID,Jong S.,Cuddy C.,Scheffer I.E.,Maljevic S.,Petrou S.

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference6 articles.

1. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy;Berecki;PNAS,2018

2. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures;Howell;Neurology,2015

3. Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model;Li;J. Clin. Invest.,2021

4. Mason ER, Wu F, Patel RR, Xiao Y, Cannon SC, Cummins TR. 2019. Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations. eNeuro 6.

5. Ovchinnikov DA. 2021. Reprogramming fibroblasts and mononuclear blood cells into iPSCs using Sendai virus. Protocols.io : https://dx.doi.org/10.17504/protocols.io.bypqpvmw https://www.protocols.io/view/reprogramming-fibroblasts-and-mononuclear-blood-ce-bypqpvmw.html.

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