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Article

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.

Clinical genetics - 1 Nov 2025

Willième Karen, Dheedene Annelies, Vanlander Arnaud, Verloo Patrick, Verhelst Helene

Abstract excerpt

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.

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Share to Mutation
Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Potassium Channels, Sodium-Activated

Share to Spasms, Infantile

Source

Identifiers

PMID: 41054829
DOI: 10.1111/cge.70024

Genes

PHACTR1
KCNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Semantic proximity does not establish scientific evidence.

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