A Novel <i>KCNN2</i> Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

A Novel <i>KCNN2</i> Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studied by linkage analysis, but the causes of essential...

Full description

Bibliographic Details
Main Authors: Maria d’Apolito, Caterina Ceccarini, Rosa Savino, Iolanda Adipietro, Ighli di Bari, Rosa Santacroce, Maria Curcetti, Giovanna D’Andrea, Anna-Irma Croce, Carla Cesarano, Anna Nunzia Polito, Maurizio Margaglione
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
gene
<i>KCNN2</i>
SK2 channel
developmental delay
essential tremor
Online Access:https://www.mdpi.com/2073-4425/14/7/1380

Internet

https://www.mdpi.com/2073-4425/14/7/1380

Similar Items