Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

doi:10.1093/brain/awaa346

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Article

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Brain : a journal of neurology - 1 Dec 2020

Mochel Fanny, Rastetter Agnès, Ceulemans Berten, Platzer Konrad, Yang Sandra, Shinde Deepali N, Helbig Katherine L, Lopergolo Diego, Mari Francesca, Renieri Alessandra, Benetti Elisa, Canitano Roberto, Waisfisz Quinten, Plomp Astrid S, Huisman Sylvia A, Wilson Golder N, Cathey Sara S, Louie Raymond J, Gaudio Daniela Del, Waggoner Darrel, Kacker Shawn, Nugent Kimberly M, Roeder Elizabeth R, Bruel Ange-Line, Thevenon Julien, Ehmke Nadja, Horn Denise, Holtgrewe Manuel, Kaiser Frank J, Kamphausen Susanne B, Abou Jamra Rami, Weckhuysen Sarah, Dalle Carine, Depienne Christel

Abstract excerpt

KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter...

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PMID: 33242881
DOI: 10.1093/brain/awaa346

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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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