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Article

Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2013

Rajakulendran Sanjeev, Roberts Joanna, Koltzenburg Martin, Hanna Michael G, Stewart Helen

Abstract excerpt

OBJECTIVE: To describe the clinical and genetic findings in a family affected by neurodevelopmental delay and cerebellar ataxia. METHODS: The affected mother and her two children underwent clinical assessments followed by radiological, neurophysiological and cytogenetic investigations. RESULTS: All three affected members exhibited varying degrees of delay in attaining motor and cognitive milestones, along with...

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Source

Identifiers

PMID: 23475819
DOI: 10.1136/jnnp-2012-304555

Genes

KCNC2

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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