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Article

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric neurology - 1 Dec 2017

Butler Kameryn M, da Silva Cristina, Alexander John J, Hegde Madhuri, Escayg Andrew

Abstract excerpt

BACKGROUND: The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic variant can help families to better cope with the disorder, allows for genetic counseling to determine recurrence risk, and in some cases, can directly influence treatment options. In this study, we determined the diagnostic yield of 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: 29056246
DOI: 10.1016/j.pediatrneurol.2017.09.003
PMCID: PMC6885003

Genes

CACNA1A
CDKL5
GABRA1
GRIN2A
KCNQ2
PCDH19
SCN1A
SCN1B
SCN2A
SCN8A
SLC2A1
STXBP1
TPP1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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