Clin Genet. 2025 Nov;108(5):612-614. doi: 10.1111/cge.70024. Epub 2025 Jul 15.
ABSTRACT
We report a 5-month-old girl with a novel PHACTR1 variant, presenting with infantile spasms and hypsarrhythmia. PHACTR1 encodes a protein with a unique actin- and phosphatase-binding structure, interacting with Slack (KCNT1-encoded), a Na+-activated K+-channel linked to epilepsy. This shared pathway may offer a promising avenue to future therapy.
PMID:41054829 | DOI:10.1111/cge.70024
