Under constructionThis map is still being built and checked. Nodes, links, and figures may change, and some content is not yet complete.
KCNT1-related epilepsy

KCNT1 Knowledge Map

This connects the entities that members of the KCNT1 community move between: the gene and its channel, the variants and phenotypes, the therapies and their evidence, and the trials, registries, biobank, and candidate biomarkers, along with the people and organizations behind each. Pick an entry point to see the part of the map that fits why you came, then click any node to read what it is, how it connects, and where the evidence is still thin.

Snapshot: August 2026 Illustrative and sourced, not a clinical resource ~500 confirmed cases reported globally, about half in the US (K1Te, 2025); a US prevalence estimate near 2,500 has also been cited (Actio, 2025)
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Dimmed swatch hides that type. Dashed edges are attempted, partial, or early-stage links. A dashed amber ring marks a node with a flagged gap.

Full node inventory every entity in the graph, its type, descriptor, and any gap
EntityTypeDescriptorGap flag

Sources

  1. KCNT1-targeting antisense oligonucleotide in two infants: seizure reduction with hydrocephalus. Nature Medicine, 2026.
  2. Clinical and genetic landscape of KCNT1-related disorders, including comparative effectiveness (clobazam, ketogenic diet, lacosamide) and quantitative EEG. medRxiv, 2026 (CHOP).
  3. K1Te decentralized natural history study design (NCT04924153). medRxiv, 2025.
  4. ABS-1230 enters Phase 1b/2 (KYRON) and the FDA Rare Disease Evidence Principles process. Contemporary Pediatrics, 2026; Actio Biosciences, 2025.
  5. KCNT1 International Registry (NORD IAMRARE) and Foundation research programs. KCNT1 Epilepsy Foundation registry; research page; participate in research.
  6. Quinidine precision-therapy trial and n-of-1 report. Neurology, 2017; n-of-1, 2022.
  7. ASO preclinical model. JCI Insight, 2022 (Florey / Ionis / Praxis).

The node and edge data are embedded in this single file. To adapt it, replace the NODES and LINKS arrays in the script with an export from your own registry or landscape review, and keep the type keys so the colors and filters still apply. Figures here are a snapshot; reproduce them from the linked sources rather than treating them as fixed.