• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.26-30
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• 2019

PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child's development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.

• Korean Journal of Poultry Science
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• v.42 no.4
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• pp.315-325
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• 2015

Recently, livestock breeding is more focused on the meat quality rather than meat quantity, mainly due to the improvement of consumers' income. Among the meat quality traits, meat color is one of very important traits because meat color is the first selection criterion from the consumers in the market. Most of the economically important traits have continuous variations and these are called quantitative traits. the genomic locations affecting these traits are called quantitative trait locus (QTL), which is mostly controlled by many genes having small effects. In this study, the recent QTL and candidate gene studies were reviewed in order to meet the consumers' demand for the future market. In the chicken QTL database, three traits are related with meat colors, namely breast color (Bco), meat color (Mco), drip loss (DL) and pH. The identified number of QTLs is 33 from 13 chromosomal regions. In these QTL regions, 14 candidate genes were identified; Eight for meat color (APP, BCMO1, COL1A2, FTO, KPNA2, PSMD12, G0S2, FTSJ3), two for drip loss (AGRP, FTO) and four for pH (GALNT1, PCDH19, DIAPH1, SPP2). These QTLs and candidate genes need to be confirmed and fine mapping is ultimately needed for identification of causative variations. The recently developed chicken resource population using Korean native chicken can be used for the improvement of meat quality traits, which increase the value that needed in the chicken industry.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.205-209
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• 2018

Purpose: Several studies have shown that magnesium plays an important role in modulating N-methyl-D-aspartate (NMDA)-related seizures by blocking NMDA ion channel receptors. Clinicians usually measure total serum magnesium levels instead of biologically active ionized magnesium levels. We compared the serum ionized magnesium ($iMg^{2+}$) level between epileptic children with and without a history of fever-triggered seizure (FTS). Methods: All epileptic children who visited the outpatient clinic or pediatric emergency department at Korea University Guro Hospital between January 2015 and July 2017 were included. Only epileptic children aged 1-8 years who were newly diagnosed within 2 years were included. Results: There were 12 children with FTS and 16 without FTS. Median serum $iMg^{2+}$ level was 0.93 (0.85-1.14, quartile) mEq/L. Serum $iMg^{2+}$ level was significantly lower in epileptic children with FTS (0.86 mEq/L) compared to those without FTS (1.10 mEq/L) (P=0.005). No difference was noted in clinical variables between the two groups. Lower serum $iMg^{2+}$ level significantly increased the risk of having FTS in epileptic children based on multivariable logistic regression analysis (odds ratio [OR]=0.028). Conclusion: Serum $iMg^{2+}$ level was significantly lower in epileptic children with FTS than in those without FTS. Measurement of biologically active serum $iMg^{2+}$ level could be considered in epileptic children with recurrent FTS. A large-scale prospective study is warranted.