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Article

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Cerebellum (London, England) - 1 Aug 2018

Nicita Francesco, Tasca Giorgio, Nardella Marta, Bellacchio Emanuele, Camponeschi Ilaria, Vasco Gessica, Schirinzi Tommaso, Bertini Enrico, Zanni Ginevra

Abstract excerpt

Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome. We describe a 41-year-old patient with non-syndromic, slowly progressive, early-onset ataxia....

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion channel regulation and function

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 29476442
DOI: 10.1007/s12311-018-0924-7

Genes

KCNJ10

Variants

Provenance

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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