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Article

Frequency of Specific Genes in Different Types of Epilepsy.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Nov 2021

Duzkale Neslihan, Akın Rıdvan

Abstract excerpt

OBJECTIVE: To determine the diagnostic importance of using an exome-based multigene panel in childhood epilepsy. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Medical Genetics, Diskapi Yildirim Beyazid Training and Research Hospital, from January 2017 to May 2020. METHODOLOGY: The phenotype-genotype relationship was investigated in 35 pediatric patients (aged 18 years or younger)...

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Share to Epilepsy
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Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34689486
DOI: 10.29271/jcpsp.2021.11.1296

Genes

CACNA1E
GABRG2
PRRT2
RELN
SCN2A
SHH
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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