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Article

[Spectrum of mutations in benign familial neonatal-infantile epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Apr 2018

Zeng Q, Zhang Y H, Yang X L, Pu L H, Zhang J, Liu A J, Yang Z X, Liu X Y, Wu X R

Abstract excerpt

Objective: To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29614566
DOI: 10.3760/cma.j.issn.0578-1310.2018.04.006

Genes

KCNQ2
PRRT2
CHRNA4

Variants

Provenance

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