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Article

The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma.

Mutation research. Reviews in mutation research - 1 Jan 2000

Erickson Robert P

Abstract excerpt

The advent of next generation sequencing (NGS, which consists of massively parallel sequencing to perform TGS (total genome sequencing) or WES (whole exome sequencing)) has abundantly discovered many causative mutations in patients with pediatric neurological disease. A surprisingly high number of these are de novo mutations which have not been inherited from either parent. For epilepsy, autism spectrum...

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PMID: 27036065
DOI: 10.1016/j.mrrev.2015.12.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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