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Purpose of the Review <p>Genetic diagnoses increasingly guide epilepsy care by informing prognosis, treatment selection, comorbidity management, and counseling. Channelopathies, disorders caused by pathogenic variants in ion channels, represent a key and clinically actionable subset of genetic epilepsies. This review summarizes clinically actionable channelopathies and late-stage translational therapies, emphasizing how functional mechanisms shape precision management.</p> Recent Findings <p>Targeted treatments for channelopathies are emerging. Precision approaches are advancing in trials, including antisense oligonucleotides, RNA interference, small-molecule modulators, and viral-based gene therapies, with several programs now in late-stage development. Additionally, conventional antiseizure therapies and repurposed medicines can serve as precision treatments when aligned with variant function.</p> Summary <p>The field of genetic epilepsy is rapidly evolving. Precision medicine is transitioning care from symptomatic management to molecular mechanism-based treatment and disease-modifying strategies. Key needs include earlier diagnosis, available functional interpretation, evidence-based implementation, equitable access to testing and emerging therapies, and provider training to navigate the rapidly evolving field of genetic epilepsies.</p>

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Targeted Treatments for Genetic Epilepsies, Part 1: Channelopathies

  • 期刊论文

  • 发表日期：

    2026年6月16日

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  • Senyene E. Hunter,
  • Emma B. Cardwell,
  • Jenna K. Lea,
  • Chethan K. Rao,
  • Debopam Samanta,
  • Amanda G. Sandoval Karamian,
  • Cemal Karakas,
  • Gozde Erdemir,
  • Zheng Fan,
  • Katherine Xiong,
  • Sai Srihitha Dommata,
  • Kristen L. Park,
  • Jonathan R. Gaillard,
  • Erika T. Axeen,
  • Mahjabeen Khan,
  • John Schreiber,
  • Sonal Bhatia

摘要

Purpose of the Review

Genetic diagnoses increasingly guide epilepsy care by informing prognosis, treatment selection, comorbidity management, and counseling. Channelopathies, disorders caused by pathogenic variants in ion channels, represent a key and clinically actionable subset of genetic epilepsies. This review summarizes clinically actionable channelopathies and late-stage translational therapies, emphasizing how functional mechanisms shape precision management.

Recent Findings

Targeted treatments for channelopathies are emerging. Precision approaches are advancing in trials, including antisense oligonucleotides, RNA interference, small-molecule modulators, and viral-based gene therapies, with several programs now in late-stage development. Additionally, conventional antiseizure therapies and repurposed medicines can serve as precision treatments when aligned with variant function.

Summary

The field of genetic epilepsy is rapidly evolving. Precision medicine is transitioning care from symptomatic management to molecular mechanism-based treatment and disease-modifying strategies. Key needs include earlier diagnosis, available functional interpretation, evidence-based implementation, equitable access to testing and emerging therapies, and provider training to navigate the rapidly evolving field of genetic epilepsies.