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Article

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

American journal of medical genetics. Part A - 1 Mar 2018

Nakayama Tojo, Ishii Atsushi, Yoshida Takeshi, Nasu Hirosato, Shimojima Keiko, Yamamoto Toshiyuki, Kure Shigeo, Hirose Shinichi

Abstract excerpt

Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29341473
DOI: 10.1002/ajmg.a.38596

Genes

PCDH19

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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