Abstract：
:Mutations in SCN8A, which codes for the voltage-gated sodium channel NaV1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment. Here, we report the case of an infant and her father with early onset benign familial infantile epilepsy, but without cognitive or neurological impairment. In this patient, diagnostic exome sequencing (DES) identified a heterozygous mutation (c.4427G>A; p.Gly1476Asp) in the SCN8A gene. This mutation, confirmed by Sanger sequencing, effects a highly conserved amino acid. In-silico analysis predicts that this mutation may be pathogenic. To our knowledge, this is the first clinical report on Korean benign familial infantile epilepsy with a SCN8A mutation. We were able to achieve good seizure control in our patients with sodium channel blockers. This result suggests the application of DES will be valuable for the diagnosis of patients with infantile epilepsy but no cognitive impairment.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Han JY,Jang JH,Lee IG,Shin S,Park Jsubject
Has Abstractpub_date
2017-11-01 00:00:00pages
747-753issue
6eissn
0091-7370issn
1550-8080pii
47/6/747journal_volume
47pub_type
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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abstract：CONTEXT:Hepatitis C virus (HCV) infects up to 1.8% of the US general population, although the rate is significantly higher in military veterans at 5.4-20%. Early detection and accurate diagnosis are critical as chronic HCV infection can lead to liver cirrhosis and hepatocellular carcinoma. Genotype analysis has both th...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
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更新日期：1996-11-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2019-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
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更新日期：2006-07-01 00:00:00
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journal_title：Annals of clinical and laboratory science
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doi：
更新日期：1984-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2018-07-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1989-03-01 00:00:00
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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更新日期：1996-09-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-04-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
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journal_title：Annals of clinical and laboratory science
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doi：
更新日期：2020-11-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2011-10-01 00:00:00
