Publications by authors named "Inn-Chi Lee"

Article Synopsis
  • SCN1A channelopathy is a main cause of a serious brain condition called epileptic encephalopathy, which leads to different levels of symptoms in patients.
  • In a study in Taiwan, researchers looked at 16 patients with changes in the SCN1A gene to understand their symptoms, treatment response, and outcomes.
  • The results showed that many patients had learning and behavior problems, especially those with a severe type called Dravet syndrome, and some medications worked better for them than others.
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  • The KCNQ2 gene mutation leads to neonatal seizures, particularly a specific form known as self-limited familial neonatal epilepsy (SLFNE), which is distinct from other severe epilepsy forms.
  • A case study of a newborn with the p.Arg448Ter mutation showed behavioral issues and seizures in the first few months, but normal development by age three.
  • Functional studies revealed that the mutated gene had impaired function on its own, but when paired with other gene variants, it approached normal activity, suggesting potential treatment benefits with certain drugs.
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Background: The SARS-CoV-2 virus has been a global public health threat since December 2019. This study aims to investigate the neurological characteristics and risk factors of coronavirus disease 2019 (COVID-19) in Taiwanese children, using data from a collaborative registry.

Methods: A retrospective, cross-sectional, multi-center study was done using an online network of pediatric neurological COVID-19 cohort collaborative registry.

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Unconjugated bilirubin (UB) levels during the first week after birth are related to outcomes in neonatal hypoxic-ischemic encephalopathy (HIE). Clinical Sarnat staging of HIE, brain magnetic resonance imaging (MRI), hearing outcomes, and neurodevelopmental outcomes ≥ 1 year were used to correlate UB in 82 HIE patients. The initial UB level was significantly correlated with lactic acid levels.

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Background: The diagnosis of neonatal hypocalcemic seizures (HS) in newborns is made based on clinical signs and serum calcium level. Their etiology is broad and diverse, and timely detection and initiation of treatment is essential.

Methods: We retrospectively reviewed 1029 patients admitted to the neonatal intensive care unit.

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Aldo-keto reductase family 1 member A (AKR1A) is an NADPH-dependent aldehyde reductase widely expressed in mammalian tissues. In this study, induced differentiation of MC3T3-E1 preosteoblasts was found to increase AKR1A gene expression concomitantly increased NO (nitrite + nitrate), increased glucose uptake, increased [NAD(P)]/[NAD(P)H] and lactate production but decreased reactive oxygen species (ROS) without changes in endothelial nitric oxide synthase (eNOS) expression in differentiated osteoblasts (OBs). A study using gain- and loss-of-function MC3T3-E1 cells indicated that AKR1A is essential for modulating OB differentiation and gene expression of collagen 1 A1, receptor activator of nuclear factor kappa-B ligand, and osteoprotegerin in OBs.

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mutations can cause benign familial neonatal convulsions (BFNCs), epileptic encephalopathy (EE), and mild-to-profound neurodevelopmental disabilities. Mutations in the selectivity filter (SF) are critical to neurodevelopmental outcomes. Three patients with neonatal EE carry de novo heterozygous p.

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The antioxidant defense system is involved in the pathogenesis of neonatal hypoxic-ischemic encephalopathy (HIE). To analyze the relationship between first serum blood glucose levels and outcomes in neonatal HIE, seventy-four patients were divided, based on the first glucose level, into group 1 (>0 mg/dL and <60 mg/dL, =11), group 2 (≥60 mg/dL and <150 mg/dL, = 49), and group 3 (≥150 mg/dL, = 14). Abnormal glucose levels had poor outcomes among three groups in terms of the clinical stage 0.

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SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause Leigh syndrome (LS), a subacute neurodegenerative encephalopathy, characterized by early onset (infancy), grave prognosis, and predominant symptoms presenting in the basal ganglia, thalamus, brainstem, cerebellum, and peripheral nerves. To date, more than sixty different mutations have been found to cause SURF1-associated LS; however, the relationship between genotype and phenotype is still unclear.

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Article Synopsis
  • * In this study, data from over 8,400 children with KD and more than 33,800 matched non-KD children were analyzed over a 12-year period to compare the incidence rates of cerebrovascular disease.
  • * Results indicated that children with KD faced a significantly higher risk of developing cerebrovascular disease—3.19 times more likely—particularly in those under 5 years old.
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Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a critical issue as early onset seizures can mimic the presentation of neurometabolic disorders. Seizures in channelopathies can either be focal or generalized, and range in severity from benign to epileptic encephalopathies that may lead to developmental regression and eventually premature death.

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Article Synopsis
  • Identifying biomarkers for hearing impairments (HIs) in neonates with hypoxic-ischemic encephalopathy (HIE) is essential for early intervention, with a significant proportion showing HIs compared to non-HIE newborns (14.1% vs. 0.87%).
  • Among the 78 HIE patients studied, moderate-to-severe cases had a higher incidence of HIs, and factors like clinical staging and blood levels of lactate and glucose were linked to these impairments.
  • The severity of HIs in infants with HIE correlated with brain anomalies and developmental outcomes at one year, highlighting the importance of monitoring clinical indicators for predicting hearing health.
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Cytomegalovirus (CMV) is a ubiquitous virus, and CMV-associated diseases range from mild illness in immunologically normal hosts to life-threatening diseases in newborns and immunocompromised children. This study investigated the association between childhood CMV infection and subsequent epilepsy or neurodevelopmental disorders, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). A retrospective analysis was performed on data for 69 children with confirmed CMV infections (CMV infection group) and 292 patients with other infections (control group) between 1 January 2006 to 31 December 2012.

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  • Dravet syndrome (DS) is a rare epilepsy disorder that significantly impacts both patients and their caregivers, yet there is a lack of reliable measures to assess this impact in Taiwan.
  • A cross-sectional survey conducted in Taiwan revealed that while seizure frequency tends to decrease with age, caregivers face major challenges such as increased household responsibilities, financial strain, and the need for constant care.
  • Caregivers reported significant concerns about independence, seizure control, and the effects on siblings, highlighting the need for greater awareness and support for families affected by DS.
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Troponin I is a biomarker for cardiac injury in children. The role of troponin I in neonatal Hypoxic-Ischemic encephalopathy (HIE) may have valuable clinical implications. Troponin I levels were measured within 6 h of birth to determine their relationship to HIE stage, short-term cardiac functional outcomes, and neurodevelopmental outcomes at 1 year.

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Article Synopsis
  • * A study analyzed data from 426 children under 5 years old who experienced FS, dividing them into preterm and full-term groups to compare the incidence of epilepsy, ASD, and ADHD.
  • * Results showed that preterm children with FS had significantly higher odds of developing epilepsy (2.52 times), ADHD (6.41 times), and ASD (16.9 times) compared to full-term peers, suggesting preterm birth is a potential risk factor for these conditions.
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Article Synopsis
  • Seizure detection was notably higher in nonstructural conditions (71.4%) compared to those with structural brain lesions (35.3%), indicating different effectiveness based on the seizure type.
  • The aEEG background had a strong predictive value for neurodevelopmental outcomes in cases of hypoxic-ischemic encephalopathy (HIE), emphasizing its role in early seizure detection and treatment strategies.
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Background: Identifying an effective method for the early diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) would be beneficial for effective therapies.

Methods: We studied blood biomarkers before 6 h after birth to correlate the degree of neonatal HIE. A total of 80 patients were divided into group 1 (mild HIE) and group 2 (moderate or severe HIE).

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Kawasaki disease is a common vasculitis of childhood in East Asia. The complications following Kawasaki disease mostly included cardiovascular sequelae; non-cardiac complications have been reported but less studied. This study investigated potential epilepsy following Kawasaki disease in Taiwanese children.

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We analyzed claims data from the Taiwan National Health Insurance database, which contains data of 23.5 million Taiwan residents. We included children born after January 1, 2000 who had received a diagnosis of autism spectrum disorders (ASD).

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Background: Pediatric epileptic encephalopathy and severe neurological disorders comprise a group of heterogenous diseases. We used whole-exome sequencing (WES) to identify genetic defects in pediatric patients.

Methods: Patients with refractory seizures using ≥2 antiepileptic drugs (AEDs) receiving one AED and having neurodevelopmental regression or having severe neurological or neuromuscular disorders with unidentified causes were enrolled, of which 54 patients fulfilled the inclusion criteria, were enrolled, and underwent WES.

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Background: KCNQ2-associated epilepsy is most common in neonatal genetic epilepsy. A prompt diagnosis to initialize early treatment is important.

Methods: We studied the electroencephalographic (EEG) changes including automated EEGs and conventional EEGs monitoring of 10 nonconsanguineous cases with KCNQ2 mutations, identified among 162 (6%) childhood epilepsy.

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Pediatric epilepsy caused by KCNQ2 mutations can manifest benign familial neonatal convulsions (BFNC) to neonatal-onset epileptic encephalopathy (EE). Patients might manifest mild to profound neurodevelopmental disabilities. We analysed c.

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Maternal diabetes mellitus (DM) increases the risk of fetal, neonatal, and long-term complications in offspring. Although this has been widely known for decades, data are limited regarding the effect of maternal pregestational and gestational diabetes on the subsequent neurodevelopmental outcome of offspring. This study investigated whether infants of mothers with diabetes (IDMs) were associated with a risk of subsequent attention deficit hyperactivity disorder (ADHD).

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Background: Kawasaki disease (KD) is a common vasculitis of childhood in East Asia. The complications of KD ascribed to long-term cardiovascular sequelae are considerably diverse. Although studies have investigated neurodevelopmental problems following KD in the past few decades, they have reported inconsistent conclusions.

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