<i>C. elegans</i> models of Alternating Hemiplegia of Childhood have dominant neuromuscular junction defects
models of AHC with robust phenotypes, demonstrate that AHC mutations disrupt NMJ function, and provide proof-of-concept for discovering cross-species modifiers of AHC-related phenotypes. Summary Statement: models of Alternating Hemiplegia of Childhood. D801N, E815K, L839P, and G947R AHC model animals have recessive development defects and dominant neuromuscular defects.
Authors
- Jeremy Lins (ORCID: https://orcid.org/0009-0007-0528-5307)
- Anne C. Hart (ORCID: https://orcid.org/0000-0001-7239-4350)
- Adam Friedberg (ORCID: https://orcid.org/0000-0003-2012-4898)
- Diana A. Wall (ORCID: https://orcid.org/0000-0002-8940-1796)
- Sienna Partipilo (ORCID: https://orcid.org/0009-0007-7464-5767)
- Roza Khalifa (ORCID: https://orcid.org/0009-0007-7712-7420)
Institutions
- Allen Institute for Brain Science (US)
- John Brown University (US)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-04-26
- DOI
- https://doi.org/10.64898/2026.04.22.720250
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00