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Research paper

CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature

Case + literature review establishing CNKSR2 (X-linked postsynaptic scaffolding protein on Xp22.12) as a monogenic cause of severe epilepsy-aphasia phenotypes within the DEE-SWAS spectrum. Patients show especially severe neurodevelopmental course.

Indexed context

Sun Y, et al.

cnksr2x-linkedepilepsy-aphasia-syndromedee-swas

Markdown path

content/research/papers/2018-sun-cnksr2-xlinked-epilepsy-aphasia.md

Findings

Case + literature review establishing CNKSR2 (X-linked postsynaptic scaffolding protein on Xp22.12) as a monogenic cause of severe epilepsy-aphasia phenotypes within the DEE-SWAS spectrum. Patients show especially severe neurodevelopmental course.

Why it may matter for Levi

Levi is XY; a hemizygous X-linked CNKSR2 variant would manifest. Confirm CNKSR2 coverage in Levi's prior sequencing before deprioritizing; CNKSR2 belongs on any mosaic-sensitive tissue-based DEE-SWAS panel.

Paper text

Sun et al. (2018) — CNKSR2 mutation causes X-linked epilepsy-aphasia syndrome

Source

Why this paper is in the corpus

Case report + literature review that established CNKSR2 (an X-linked postsynaptic scaffolding protein on Xp22.12) as a monogenic cause of severe epilepsy-aphasia phenotypes within the DEE-SWAS / CSWS / Landau-Kleffner spectrum. Companion reference to Viswanathan 2024 and Freibauer 2023, both of which list CNKSR2 among recurrently implicated genes.

Key findings

  • Presented a case of X-linked epilepsy-aphasia syndrome with a pathogenic CNKSR2 variant.
  • Reviewed the prior literature establishing CNKSR2 as a severe-phenotype cause of language regression + sleep-activated epileptiform discharges.
  • Reinforced that CNKSR2-related disease presents with an especially severe neurodevelopmental course within the epilepsy-aphasia spectrum.

Levi-relevant takeaways

  • Confirm CNKSR2 coverage in Levi's prior sequencing (trio exome, trio WGS, reanalysis) before deprioritizing.
  • Levi is XY and a hemizygous X-linked variant would manifest, so X-linked recessive causes like CNKSR2 should be on any remaining differential list, including any mosaic-sensitive tissue-based panel.

Citation note

Referenced as [10] in the 2026-04-21 user-supplied comprehensive DEE-SWAS / ESES / CSWS research report.