Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Abstract Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorde...

Full description

Bibliographic Details
Main Authors: Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
AHNAK2
borderline intellectual functioning
epilepsy
facio‐cardio‐cutaneous‐like phenotype
NGS exome
Online Access:https://doi.org/10.1002/mgg3.2012

Internet

https://doi.org/10.1002/mgg3.2012

Similar Items