Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

ABSTRACT:

Background and objectives

KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.

Methods

We screened 893 individuals with developmental and epileptic encephalopathies for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified through an international collaboration. Clinical history, EEG, and imaging data were analyzed; seizure types and epilepsy syndromes were classified. We included 3 previously published individuals including additional phenotypic details.

Results

We report a cohort of 17 patients, including 9 with a recurrent de novo missense variant p.Arg327H

SUBMITTER: Happ HC 

PROVIDER: S-EPMC9946193 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature