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

Importance

Knowing the range of symptoms seen in patients with a missense or loss-of-function variant inKCNB1and 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 withKCNB1variants and the genotype-phenotype correlations.

Design, Setting, and Participants

This study...