Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging. Methods: This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history. Results: Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes. Conclusion This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.

Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging. Methods: This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history. Results: Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes. Conclusion This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.

Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging. Methods: This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history. Results: Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes. Conclusion This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.

Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging. Methods: This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history. Results: Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes. Conclusion This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.

Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging. Methods: This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history. Results: Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes. Conclusion This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.

Purpose: This study aimed to improve the reimbursement policies in the service of Korean Advanced Practice Nurses (APNs) to enhance their utilization in practice. Methods: The study was conducted in three stages: 1) reviewing other countries’ APN systems; 2) conducting focus group interviews and online surveys with APNs to gather opinions on their roles, practices, and reimbursement status; and 3) proposal for improving reimbursement policies based on expert consultations. The data was collected between March and June 2023. Results: In the United States, APNs can be reimbursed at 85~100 % of physician fees for services provided under the Balanced Budget Act of 1997. In Japan, reimbursement is only available for 38 tasks performed among specially trained Certified Nurses. Master’s level APN education has been created but not nationally legislated. The results of focus group interviews reveal low awareness and legal limitations of Korean APNs’ roles. The results of online surveys indicate high professional pride but low satisfaction with little reimbursement system, and 71.4% of respondents denote the APN field’s integration. Also, expansion of current reimbursement to other APN fields and regular evaluation of roles and reimbursement were recommended. Conclusion In this study, it is necessary to clarify APNs’ roles, and scope of practice, and establish benefits and reimbursement systems for professional APNs’ health services. This study suggests improvements to enhance the Korean APN system and healthcare quality in Korea.

Purpose: This study aimed to improve the reimbursement policies in the service of Korean Advanced Practice Nurses (APNs) to enhance their utilization in practice. Methods: The study was conducted in three stages: 1) reviewing other countries’ APN systems; 2) conducting focus group interviews and online surveys with APNs to gather opinions on their roles, practices, and reimbursement status; and 3) proposal for improving reimbursement policies based on expert consultations. The data was collected between March and June 2023. Results: In the United States, APNs can be reimbursed at 85~100 % of physician fees for services provided under the Balanced Budget Act of 1997. In Japan, reimbursement is only available for 38 tasks performed among specially trained Certified Nurses. Master’s level APN education has been created but not nationally legislated. The results of focus group interviews reveal low awareness and legal limitations of Korean APNs’ roles. The results of online surveys indicate high professional pride but low satisfaction with little reimbursement system, and 71.4% of respondents denote the APN field’s integration. Also, expansion of current reimbursement to other APN fields and regular evaluation of roles and reimbursement were recommended. Conclusion In this study, it is necessary to clarify APNs’ roles, and scope of practice, and establish benefits and reimbursement systems for professional APNs’ health services. This study suggests improvements to enhance the Korean APN system and healthcare quality in Korea.

Objective: This study examined the mediating effect of negative changes in daily life due to the coronavirus disease-2019 (COVID-19) pandemic on depressive symptoms, considering COVID-19 infection and related social concerns. Additionally, comparisons of path coefficients between the groups were conducted based on age and gender. Methods: A cross-sectional study design used data from the 2020 Korean Community Health Survey consisting of 229,269 individuals. This study used a self-reported questionnaire, including the Patient Health Questionnaire-9 and three items addressing social concerns related to COVID-19 infection. A single question assessed whether individuals had experienced COVID-19 infection within the last 3 months, and scores of negative changes in daily life due to the COVID-19 pandemic. Correlation analysis was performed on the variables. Structural equation model analysis was conducted to identify the mediating role of negative changes in daily life. Chi-square tests were also performed to compare the path coefficients based on age and gender. Results: The structural equation models revealed that COVID-19 infection and related social concerns had both significant direct effects on depressive symptoms and indirect effects through negative changes in daily life. When comparing the path coefficients by age and gender, the coefficients related to depressive symptoms were highest in those under 65 years and in females. Conclusion Negative changes in daily life due to the COVID-19 pandemic serve as a partial mediator of the impact of COVID-19 infection and related social concerns on depressive symptoms. Special attention should be paid to depressive symptoms in those under 65 years of age and in females.

Objective: This study examined the mediating effect of negative changes in daily life due to the coronavirus disease-2019 (COVID-19) pandemic on depressive symptoms, considering COVID-19 infection and related social concerns. Additionally, comparisons of path coefficients between the groups were conducted based on age and gender. Methods: A cross-sectional study design used data from the 2020 Korean Community Health Survey consisting of 229,269 individuals. This study used a self-reported questionnaire, including the Patient Health Questionnaire-9 and three items addressing social concerns related to COVID-19 infection. A single question assessed whether individuals had experienced COVID-19 infection within the last 3 months, and scores of negative changes in daily life due to the COVID-19 pandemic. Correlation analysis was performed on the variables. Structural equation model analysis was conducted to identify the mediating role of negative changes in daily life. Chi-square tests were also performed to compare the path coefficients based on age and gender. Results: The structural equation models revealed that COVID-19 infection and related social concerns had both significant direct effects on depressive symptoms and indirect effects through negative changes in daily life. When comparing the path coefficients by age and gender, the coefficients related to depressive symptoms were highest in those under 65 years and in females. Conclusion Negative changes in daily life due to the COVID-19 pandemic serve as a partial mediator of the impact of COVID-19 infection and related social concerns on depressive symptoms. Special attention should be paid to depressive symptoms in those under 65 years of age and in females.

Objective: This study examined the mediating effect of negative changes in daily life due to the coronavirus disease-2019 (COVID-19) pandemic on depressive symptoms, considering COVID-19 infection and related social concerns. Additionally, comparisons of path coefficients between the groups were conducted based on age and gender. Methods: A cross-sectional study design used data from the 2020 Korean Community Health Survey consisting of 229,269 individuals. This study used a self-reported questionnaire, including the Patient Health Questionnaire-9 and three items addressing social concerns related to COVID-19 infection. A single question assessed whether individuals had experienced COVID-19 infection within the last 3 months, and scores of negative changes in daily life due to the COVID-19 pandemic. Correlation analysis was performed on the variables. Structural equation model analysis was conducted to identify the mediating role of negative changes in daily life. Chi-square tests were also performed to compare the path coefficients based on age and gender. Results: The structural equation models revealed that COVID-19 infection and related social concerns had both significant direct effects on depressive symptoms and indirect effects through negative changes in daily life. When comparing the path coefficients by age and gender, the coefficients related to depressive symptoms were highest in those under 65 years and in females. Conclusion Negative changes in daily life due to the COVID-19 pandemic serve as a partial mediator of the impact of COVID-19 infection and related social concerns on depressive symptoms. Special attention should be paid to depressive symptoms in those under 65 years of age and in females.