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Article

Timothy syndrome iPSC modeling.

Molecular and cellular neurosciences - 1 Sept 2020

Bekdash Ramsey, Klein Alison D, Yazawa Masayuki

Abstract excerpt

L-type voltage-gated calcium channels play an essential role in various physiological systems including neuronal excitation and any mutation or dysfunction in the channel has significant impact on human brain function resulting in psychiatric diseases. Particular gain-of-function mutations in CACNA1C encoding CaV1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype....

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Identifiers

PMID: 32629111
DOI: 10.1016/j.mcn.2020.103529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

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Timothy syndrome iPSC modeling.PMID 32629111Read ↗

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CACNA1C-Related Channelopathies.Semantic proximity Read ↗

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.Semantic proximity Read ↗

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read ↗

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.Semantic proximity Read ↗

Modeling Timothy syndrome with iPS cells.Semantic proximity Read ↗

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.Semantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effectsSemantic proximity Read ↗

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.Semantic proximity Read ↗

Gain and loss of function changes in <i>CACNA1C</i> affect neuronal networks through divergent pathwaysSemantic proximity Read ↗

Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndromeSemantic proximity Read ↗

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