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: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods: Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed. Results: The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia. Conclusion This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios.

Background/Aims: The recent update on the Selecting Therapeutic Targets in Inflammatory Bowel Disease initiative has added normal growth in children as an intermediate target in Crohn’s disease and ulcerative colitis. We aimed to investigate factors associated with reaching midparental height (MPH) in patients diagnosed with inflammatory bowel disease in childhood and the adolescent period. Methods: This multicenter retrospective observational study included pediatric patients with inflammatory bowel disease that had reached adult height. Factors associated with reaching MPH were investigated by logistic regression analyses. Results: A total of 166 patients were included in this study (128 Crohn’s disease and 38 ulcerative colitis). Among them, 54.2% (90/166) had reached their MPH. Multivariable logistic regression analysis revealed that height Z-score at diagnosis and MPH Z-score were independently associated with reaching MPH (odds ratio [OR], 8.45; 95% confidence interval [CI], 4.44 to 17.90;p<0.001 and OR, 0.11; 95% CI, 0.04 to 0.24; p<0.001, respectively). According to the receiver operating characteristic curve analysis, the optimal cutoff level of "height Z-score at diagnosis minus MPH Z-score" that was associated with reaching MPH was –0.01 with an area under the curve of 0.889 (95% CI [0.835 to 0.944], sensitivity 88.9%, specificity 84.2%, positive predictive value 87.0%, negative predictive value 86.5%, p<0.001). Conclusions Height Z-score at diagnosis and MPH Z-score were the only factors associated with reaching MPH. Efforts should be made to restore growth in pediatric patients who present with a negative “height Z-score at diagnosis minus MPH Z-score.”

Background: During the coronavirus disease 2019 (COVID-19) pandemic, patients with myasthenia gravis (MG) were more susceptible to poor outcomes owing to respiratory muscle weakness and immunotherapy. Several studies conducted in the early stages of the COVID-19 pandemic reported higher mortality in patients with MG compared to the general population. This study aimed to investigate the clinical course and prognosis of COVID-19 in patients with MG and to compare these parameters between vaccinated and unvaccinated patients in South Korea. Methods: This multicenter, retrospective study, which was conducted at 14 tertiary hospitals in South Korea, reviewed the medical records and identified MG patients who contracted COVID-19 between February 2022 and April 2022. The demographic and clinical characteristics associated with MG and vaccination status were collected. The clinical outcomes of COVID-19 infection and MG were investigated and compared between the vaccinated and unvaccinated patients. Results: Ninety-two patients with MG contracted COVID-19 during the study. Nine (9.8%) patients required hospitalization, 4 (4.3%) of whom were admitted to the intensive care unit. Seventy-five of 92 patients were vaccinated before contracting COVID-19 infection, and 17 were not. During the COVID-19 infection, 6 of 17 (35.3%) unvaccinated patients were hospitalized, whereas 3 of 75 (4.0%) vaccinated patients were hospitalized (P < 0.001). The frequencies of ICU admission and mechanical ventilation were significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.019 and P = 0.032, respectively). The rate of MG deterioration was significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.041). Logistic regression after weighting revealed that the risk of hospitalization and MG deterioration after COVID-19 infection was significantly lower in the vaccinated patients than in the unvaccinated patients. Conclusion This study suggests that the clinical course and prognosis of patients with MG who contracted COVID-19 during the dominance of the omicron variant of COVID-19 may be milder than those at the early phase of the COVID-19 pandemic when vaccination was unavailable. Vaccination may reduce the morbidity of COVID-19 in patients with MG and effectively prevent MG deterioration induced by COVID-19 infection.

Osteoporosis and osteoporotic fractures cause socioeconomic concerns, and medical system and policies appear insufficient to prepare for these issues in Korea, where the older adult population is rapidly increasing. Many countries around the world are already responding to osteoporosis and osteoporotic fractures by adopting fracture liaison service (FLS), and such an attempt has only begun in Korea. In this article, we introduce the operation methods for institutions implementing FLS and characteristics of services, and activities of the FLS Committee for FLS implementation in the Korean Society for Bone and Mineral Research. In addition, we hope that the current position statement will contribute to the implementation of FLS in Korea and impel policy changes to enable a multidisciplinary and integrated FLS operated under the medical system.

Objective: We aimed to evaluate the efficacy of EmboTrap II in terms of first-pass recanalization and to determine whether it could yield favorable outcomes. Materials and Methods: In this multicenter, prospective study, we consecutively enrolled patients who underwent mechanical thrombectomy using EmboTrap II as a front-line device. The primary outcome was the first pass effect (FPE) rate defined by modified Thrombolysis In Cerebral Infarction (mTICI) grade 2c or 3 by the first pass of EmboTrap II. In addition, modified FPE (mFPE; mTICI grade 2b–3 by the first pass of EmboTrap II), successful recanalization (final mTICI grade 2b–3), and clinical outcomes were assessed. We also analyzed the effect of FPE on a modified Rankin Scale (mRS) score of 0–2 at 3 months. Results: Two hundred-ten patients (mean age ± standard deviation, 73.3 ± 11.4 years; male, 55.7%) were included. Ninetynine patients (47.1%) had FPE, and mFPE was achieved in 150 (71.4%) patients. Successful recanalization was achieved in 191 (91.0%) patients. Among them, 164 (85.9%) patients underwent successful recanalization by exclusively using EmboTrap II. The time from groin puncture to FPE was 25.0 minutes (interquartile range, 17.0–35.0 minutes). Procedure-related complications were observed in seven (3.3%) patients. Symptomatic intracranial hemorrhage developed in 14 (6.7%) patients. One hundred twenty-three (58.9% of 209 completely followed) patients had an mRS score of 0–2. Sixteen (7.7% of 209) patients died during the follow-up period. Patients who had successful recanalization with FPE were four times more likely to have an mRS score of 0–2 than those who had successful recanalization without FPE (adjusted odds ratio, 4.13;95% confidence interval, 1.59–10.8; p = 0.004). Conclusion Mechanical thrombectomy using the front-line EmboTrap II is effective and safe. In particular, FPE rates were high. Achieving FPE was important for an mRS score of 0–2, even in patients with successful recanalization.