Publications by authors named "Aarushi Nayak"
Article Synopsis
- Catecholaminergic polymorphic ventricular tachycardia is a rare, inherited heart condition that causes dangerous heart rhythms, both atrial and ventricular.
- Treatment options include medications, sympathetic nerve surgery, and implantable defibrillators, but not atrioventricular nodal ablation, which has shown no effectiveness in research.
- A case study discusses a teenager whose atrial arrhythmias obscured the diagnosis, leading to an unsuccessful atrioventricular nodal ablation before being diagnosed with this syndrome.
Objective: Collier/Olf/EBF (COE) transcription factors have distinct expression patterns in the developing and mature nervous system. To date, a neurological disease association has been conclusively established for only the Early B-cell Factor-3 (EBF3) COE family member through the identification of heterozygous loss-of-function variants in individuals with autism spectrum/neurodevelopmental disorders (NDD). Here, we identify a symptom severity risk association with missense variants primarily disrupting the zinc finger domain (ZNF) in EBF3-related NDD.
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