Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple–Baraitser/Zimmermann–Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant

Mastrangelo M, Scheffer IE, Bramswig NC, et al. Epilepsy in KCNH1-related syndromes. Epileptic Disord. 2016;18(2):123–36.

Article  PubMed  Google Scholar 

Simons C, Rash L, Crawford J, et al. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015;47(1):73–7.

Article  CAS  PubMed  Google Scholar 

Tian M, Li R, Yang F, et al. Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations. CNS Neurosci Ther. 2023;29:270–81.

Article  CAS  PubMed  Google Scholar 

Tidball A, Parent J. Concise review: exciting cells: modeling genetic epilepsies with patient-derived induced pluripotent stem cells. Stem Cells. 2016;34(1):27–33.

Article  PubMed  Google Scholar 

Palasantzas V, Tamargo-Rubio I, Le K, et al. iPSC-derived organ-on-a-chip models for personalized human genetics and pharmacogenomics studies. Trends Genet. 2023;39(4):268–84.

Article  CAS  PubMed  Google Scholar 

Silva-Pedrosa R, Salgado A, Ferreira P. Revolutionizing disease modeling: the emergence of organoids in cellular systems. Cells. 2023;12(6):930.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Javaid M, Tan T, Dvir N, et al. Human in vitro models of epilepsy using embryonic and induced pluripotent stem cell. Cells. 2022;11(24):3957.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hirose S, Tanaka Y, Shibata M, et al. Application of induced pluripotent stem cells in epilepsy. Mol Cell Neurosci. 2020;108: 103535.

Article  CAS  PubMed  Google Scholar 

Gripp KW, Smithson SF, Scurr IJ, et al. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies. Eur J Hum Genet. 2021;29(9):1384–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bertoli-Avella A, Beetz C, Ameziane N, et al. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet. 2021;29(1):141–53.

Article  CAS  PubMed  Google Scholar 

Geisheker M, Heymann G, Wang T, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci. 2017;20(8):1043–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fukai R, Saitsu H, Tsurusaki Y, et al. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. J Hum Genet. 2016;61(5):381–7.

Article  CAS  PubMed  Google Scholar 

Bramswig NC, Ockeloen CW, Czeschik JC, et al. ‘Splitting versus lumping’: temple-Baraitser and Zimmermann-Laband syndromes. Hum Genet. 2015;134(10):1089–97.

Article  CAS  PubMed  Google Scholar 

Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, et al. From FastQ data to high confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinform. 2013;43(11):1–11.

Google Scholar 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25:2078–9.

Article  PubMed  PubMed Central  Google Scholar 

Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM. Robust relationship inference in genome-wide association studies. Bioinformatics. 2010;26:2867–73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38: e164.

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Neaverson A, Andersson M, Arshad O, et al. Differentiation of human induced pluripotent stem cells into cortical neural stem cells. Front Cell Dev Biol. 2023;10:1023340.

Article  PubMed  PubMed Central  Google Scholar 

Zhou T, Benda C, Dunzinger S, et al. Generation of human induced pluripotent stem cells from urine samples. Nat Protoc. 2012;7(12):2080–9.

Article  CAS  PubMed  Google Scholar 

Martin S, Oliveira C, Queiroz F, et al. Eag1 potassium channel immunohistochemistry in the CNS of adult rat and selected regions of human brain. Neuroscience. 2008;155(3):833–44.

Article  CAS  PubMed  Google Scholar 

Cázares-Ordoñez V, Pardo L. Kv10.1 potassium channel: from the brain to the tumors. Biochem Cell Biol. 2017;95(5):531–6.

Article  PubMed  Google Scholar 

Bauer C, Schwarz J. Physiology of EAG K+Channels. J Membr Biol. 2001;182:1–15.

Article  CAS  PubMed  Google Scholar 

Kortüm F, Caputo V, Bauer C, et al. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann–Laband syndrome. Nat Genet. 2015;47(6):661–7.

Article  PubMed  Google Scholar 

Sánchez A, Urrego D, Pardo L. Cyclic expression of the voltage-gated potassium channel KV10.1 promotes disassembly of the primary cilium. EMBO Rep. 2016;17(5):708–23.

Article  PubMed  PubMed Central  Google Scholar 

Jiao J, Yang Y, Shi Y, et al. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum Mol Genet. 2013;22:4241–52.

Article  CAS  PubMed  Google Scholar 

Liu J, Gao C, Chen W, et al. CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation. Transl Psychiatry. 2016;6: e703.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim H, Quan Z, Kim Y, et al. Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. Brain Dev. 2018;40:287–98.

Article  PubMed  Google Scholar 

Niu W, Siciliano B, Wen Z. Modeling tuberous sclerosis complex with human induced pluripotent stem cells. World J Pediatr. 2022; Online ahead of print. PMID: 35759110. https://link.springer.com/article/10.1007/s12519-022-00576-8

Papazian DM, Timpe LC, Jan YN, Jan LY. Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence. Nature. 1991;349:305–10.

Article  ADS  CAS  PubMed  Google Scholar 

Catterall WA. Ion channel voltage sensors: structure, function, and pathophysiology. Neuro. 2010;67(6):915–28.

CAS  Google Scholar 

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