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Article

Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy.

Journal of paediatrics and child health - 1 Nov 2004

Skinner J R, Chong B, Fawkner M, Webster D R, Hegde M

Abstract excerpt

Post-mortem investigation of sudden death in young people frequently reveals no overt cause for the death. Full investigation is hampered if tissue or blood is not retained for DNA analysis. We report a post mortem molecular diagnosis of long QT syndrome in a 12-year-old boy diagnosed with epilep...

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Source

Identifiers

PMID: 15469540
DOI: 10.1111/j.1440-1754.2004.00498.x

Genes

KCNQ1

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15469540-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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