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

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function.

Clinical genetics - 1 Oct 2025

Piotrowski Johanne, Schaefer Élise, Kuntz Michael, Bois Virginie, Schieffer Franz, Jesel Laurence, Biehler Margaux, De Saint Martin Anne, Baer Sarah

Abstract excerpt

We report the first known case of a 9-year-old male with early-onset epilepsy, syncope, and ictal asystole-requiring pacemaker implantation at the age of seven-associated with a pathogenic variant in FGF12.

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Epilepsy
Share to Fibroblast Growth Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Arrest

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40897676
DOI: 10.1111/cge.70018
PMCID: PMC12405065

Genes

FGF12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function.PMID 40897676Read ↗

Effective treatments for FGF12-related early-onset epileptic encephalopathies patientsSemantic proximity Read ↗

Early repolarization syndrome, epilepsy, and atrial fibrillation in a young girl with novel KCND3 mutation managed with quinidine.Semantic proximity Read ↗

Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular dystrophy.Semantic proximity Read ↗

Novel cardiac manifestation of USH2A and GJB2 genes: A case reportSemantic proximity Read ↗

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.Semantic proximity Read ↗

Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility studySemantic proximity Read ↗

Timing of pacemaker and ICD implantation in LMNA mutation carriers.Semantic proximity Read ↗

Cardiac channelopathies in pediatrics: a genetic update.Semantic proximity Read ↗

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