Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background
Abstract Objective The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counseling and individualized treatment. Penetrance is usually considered to be high or full, although this has never been studied in population cohorts.
Remi Stevelink +5 more
wiley +1 more source
Editorial: Cardiovascular genetics—focus on paediatric cardiomyopathy
Emanuele Monda +3 more
doaj +1 more source
Constrictive-effusive pericarditis and epicarditis as a cause of restrictive cardiomyopathy associated with Dirofilaria repens infection in a dog. [PDF]
Szaluś-Jordanow O +9 more
europepmc +1 more source
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy [PDF]
Álvaro Roldan-Sevilla +6 more
openalex +1 more source
Cost‐utility of LBBAP CRT versus BVP CRT. ABSTRACT Introduction Cardiac resynchronization therapy (CRT) is a well‐established treatment for patients with heart failure (HF). Recently, left bundle branch area pacing (LBBAP) has emerged as a more physiological alternative to biventricular pacing (BVP) for CRT.
José M. Sánchez‐Moreno +8 more
wiley +1 more source
Clinical-genetic profiles and risk prediction model in childhood restrictive cardiomyopathy: a national cohort study of China. [PDF]
Chen H +32 more
europepmc +1 more source
Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. [PDF]
Wang BZ +20 more
europepmc +1 more source
Complexity of Sarcomere Protein Gene Mutations in Restrictive Cardiomyopathy
Shuai Wang, Daoquan Peng
openalex +2 more sources
This central illustration visually summarizes the first co‐implantation of a Cardiac Contractility Modulation (CCM) system and a Micra leadless pacemaker in a 78‐year‐old male with wild‐type transthyretin cardiac amyloidosis and NYHA Class III heart failure.
Gabriele Pavani +5 more
wiley +1 more source
A case report of MYH7 mutation-induced restrictive cardiomyopathy. [PDF]
Zhang S, Zhao W.
europepmc +1 more source

