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Article

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Stosser Mary Beth, Lindy Amanda S, Butler Elizabeth, Retterer Kyle, Piccirillo-Stosser Caitlin M, Richard Gabriele, McKnight Dianalee A

Abstract excerpt

PurposeMosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28837158
DOI: 10.1038/gim.2017.114
PMCID: PMC5895461

Genes

KCNQ2
MECP2
CDKL5
GABRA1
GABRG2
PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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