Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.

Gene - 20 Apr 2021

Hermida Alexis, Jedraszak Guillaume, Kubala Maciej, Mathiron Amel, Berna Pascal, Bennis Youssef, Hermida Jean-Sylvain

Abstract excerpt

We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. He shows no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he shows developmental delays, without autism, and dental abnormalities. The cardiac phenotype is very severe, with a resuscitated cardiac...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Calcium Channels, L-Type

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrocardiography

Share to Follow-Up Studies

Share to Long QT Syndrome

Share to Syndactyly

Share to Treatment Outcome

Source

Identifiers

PMID: 33524520
DOI: 10.1016/j.gene.2021.145465

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.PMID 33524520Read ↗

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

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.Semantic proximity Read ↗

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.Semantic proximity Read ↗

Timothy Syndrome and Torsades De Pointes in a Newborn - Case ReportSemantic proximity Read ↗

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.Semantic proximity Read ↗

Inhibition of Late Sodium Current by MexiletineSemantic proximity Read ↗

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.Semantic proximity Read ↗

A Natural History Study of Timothy Syndrome.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 ↗

Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.Semantic proximity Read ↗

Timothy syndrome iPSC modeling.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.