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Research paper

KCNA2 Variants in Epilepsy: Focusing on SWAS

Genotype-phenotype study of KCNA2-related SWAS. Characterizes variant spectrum (gain-of-function vs loss-of-function), phenotypic range, treatment response patterns, and prognostic indicators.

Indexed context

Ma Y, et al.

kcna2dee-swasgenotype-phenotypegenetic-epilepsy2026

Markdown path

content/research/papers/2026-ma-kcna2-swas-genotype-phenotype.md

Findings

Genotype-phenotype study of KCNA2-related SWAS. Characterizes variant spectrum (gain-of-function vs loss-of-function), phenotypic range, treatment response patterns, and prognostic indicators.

Why it may matter for Levi

KCNA2 is on the DEE-SWAS genetic panel list. Levi's prior trio WES did not identify a KCNA2 variant, but the genotype-phenotype map here is useful for interpreting any ambiguous variants that might emerge on re-analysis or tissue-based sequencing.

Paper text

Ma et al. (2026) — KCNA2 variants and SWAS

Source

  • Pediatric Neurology, 2026.

Why in corpus

Extends the DEE-SWAS genetic landscape. KCNA2 encodes the Kv1.2 voltage-gated potassium channel subunit; pathogenic variants cause epilepsy with a recognized relationship to SWAS.

Key findings

  • 77-patient KCNA2 cohort; 18.2% (14 patients) developed SWAS.
  • Pore-domain variants significantly associated with SWAS (p<0.001) — clear genotype-phenotype signal.
  • Most common variant associated with SWAS: p.Pro405Leu (12 of 14 SWAS patients).
  • Only 42.9% of SWAS patients with KCNA2 variants responded to treatment; 28.6% developed drug-resistant epilepsy.

Levi-relevant takeaways

  • Adds KCNA2 to the list of channelopathy genes to verify coverage for in Levi's prior sequencing. Consistent with the Viswanathan 2024 channelopathy cluster in DEE-SWAS genes.
  • Pore-domain location matters — a variant class-aware interpretation of any KCNA2 finding would be needed.
  • The relatively low treatment-response rate in KCNA2 SWAS (42.9%) is a caution — if a KCNA2 variant were ever identified in Levi, treatment expectations should be moderated.
  • KCNA2 is on most commercial pediatric epilepsy panels; confirm it was covered in Levi's Stanford / GeneDx reports.