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2023 Fiscal Year Annual Research Report

Functional and pharmacological investigation on novel KCND3 variants identified in patients with early repolarization syndrome and refractory epilepsy

Research Project

Project/Area Number 22K20906
Research InstitutionNational Cardiovascular Center Research Institute

Principal Investigator

ビャムバジャブ ツェレンハム  国立研究開発法人国立循環器病研究センター, オープンイノベーションセンター, リサーチフェロー (60963527)

Project Period (FY) 2022-08-31 – 2024-03-31
Keywordspotassium channel / Kv4.3 variants / electrophysiology / gain-of-function / neurological disorders
Outline of Annual Research Achievements

Sudden Unexpected Death in Epilepsy (SUDEP) is one of the most frequent causes of death in patients with refractory epilepsy (RE). We identified two novel KCND3 variants in young patients with RE though the functional properties of these variants have not been elucidated. We aimed to elucidate the electrophysiological changes of novel KCND3 variants and to analyze the pharmacological effect to the variants. We have successfully created a cultured cell model with transiently expressing KCND3 encoding Kv4.3. The variant Ito channels caused gain-of-function
effect: increase of Ito densities, leftward movement of activation and inactivation curves, slow inactivation and slow recovery from inactivation. We investigated promising effects of candidate medicines.

  • Research Products

    (3 results)

All 2024 2023

All Presentation (3 results) (of which Int'l Joint Research: 1 results)

  • [Presentation] De novo gain-of-function KCND3 variants in young patients with refractory epilepsy2024

    • Author(s)
      Byambajav Tserenlkham
    • Organizer
      6NC retreat 2024
  • [Presentation] KCND3 Variants Identified in Young Refractory Epilepsy Patients Showed Similar Gain-of-Functional Change with those in patients with Early Repolarization Syndrome2023

    • Author(s)
      Byambajav Tserenlkham
    • Organizer
      87th Annual Scientific Meeting of the Japanese Circulation Society (JCS2023)
  • [Presentation] Gain- of-Function KCND3 Variants Identified in Young Patients with Refractory Epilepsy might be a Cause of Sudden Unexpected Death in Epilepsy2023

    • Author(s)
      Byambajav Tserenlkham
    • Organizer
      Heart Rhythm 2023
    • Int'l Joint Research

URL: 

Published: 2024-12-25  

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