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Article

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Neurologia i neurochirurgia polska - 1 Jan 2000

Das Joyutpal, Lilleker James, Shereef Hannah, Ealing John

Abstract excerpt

The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca2+, an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28826917
DOI: 10.1016/j.pjnns.2017.06.012

Genes

ITPR1

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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Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.PMID 28826917Read ↗

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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Semantic proximity Read ↗

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