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[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2009

Wang Xin-hua, Zhou Shui-zhen, Guo Qian, Sun Dao-kai

Abstract excerpt

OBJECTIVE: To study the clinical and genetic characteristics of generalized epilepsy with febrile seizures plus (GEFS). METHODS: Data of two probands of the disease were collected through outpatient clinic. DNA was extracted from peripheral blood leukocytes using RelaxGene Blood DNA System. Twenty-six exons of SCN1A were amplified by polymerase chain reaction (PCR), the PCR products were screened by denaturing...

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DNA Mutational Analysis
Epilepsy, Generalized
Genetic Testing
Infant
NAV1.1 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Seizures, Febrile

Sodium Channels

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PMID: 19951487

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