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Article

Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Nov 2023

Assi Jeries, Chyta Marianna, Mavridis Ioannis

Abstract excerpt

Lhermitte-Duclos disease (LDD) refers to cerebellar dysplastic gangliocytoma, a slow-growing tumor. Pathogenic variants of voltage-gated potassium channels have been associated with epilepsy of variable severity. These include the sodium-activated potassium channel subfamily T member 2 (KCNT2) gene, which encodes for pore-forming alpha subunits. KCNT2 gene mutations have been recently described to cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37368068
DOI: 10.1007/s00381-023-06039-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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