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Article

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA network open - 5 Apr 2019

Balciuniene Jorune, DeChene Elizabeth T, Akgumus Gozde, Romasko Edward J, Cao Kajia, Dubbs Holly A, Mulchandani Surabhi, Spinner Nancy B, Conlin Laura K, Marsh Eric D, Goldberg Ethan, Helbig Ingo, Sarmady Mahdi, Abou Tayoun Ahmad

Abstract excerpt

Importance: Although genetic testing is important for bringing precision medicine to children with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic yield. Objectives: To evaluate the diagnostic yield of an exome-based gene panel for childhood epilepsy and discuss the value of follow-up testing. Design, Setting, and Participants: A case series study was conducted on data from...

Read the complete abstract on PubMed

Topics

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Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

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Share to Tripeptidyl-Peptidase 1

Source

Open in PubMed Open full text

Identifiers

PMID: 30977854
DOI: 10.1001/jamanetworkopen.2019.2129
PMCID: PMC6481455

Genes

ATP1A2
ATP1A3
CACNA1A
DEPDC5
GABRA1
IQSEC2
KCNQ2
KCNT1
NR2F1
PCDH19
PRRT2
SCN1A
SCN2A
SCN8A
SETBP1
SMC1A
STXBP1
TPP1
TRIT1
UBE3A

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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