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

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2018, Springer Science+Business Media, LLC, part of Springer Nature.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. Targeted next-generation sequencing identified a novel c.180 T > G (p.Ile60Met) missense homozygous mutation. The mutated residue Ile60Met likely impairs phosphatidylinositol 4, 5-bisphosphate (PIP2) binding which is known to play an essential role in channel gating. Our study expands the clinical and mutational spectrum of KCNJ10-related disorders and suggests that screening of this gene should be implemented in patients with early-onset ataxia, with or without syndromic features.

Publication metadata

Author(s): Nicita F, Tasca G, Nardella M, Bellacchio E, Camponeschi I, Vasco G, Schirinzi T, Bertini E, Zanni G

Publication type: Article

Publication status: Published

Journal: Cerebellum

Year: 2018

Volume: 17

Issue: 4

Pages: 499-503

Online publication date: 23/02/2018

Acceptance date: 01/01/2018

ISSN (print): 1473-4222

ISSN (electronic): 1473-4230

Publisher: Springer New York LLC


DOI: 10.1007/s12311-018-0924-7

PubMed id: 29476442


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