Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

ABSTRACT:

Importance

Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.

Objectives

To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations.

Design, setting, and participants

This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1. Patients were identified in research projects or during clinical testing. Information on patients from previously published articles was collected and authors contacted if feasible. All patients were seen at a clinic at one of the participating institutes becau

SUBMITTER: de Kovel CGF 

PROVIDER: S-EPMC5710242 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature