Child Neurology: Neurophysiologic and Anatomical Correlates in Startle Epilepsy: A Comprehensive SEEG Investigation for Successful Resective Surgery.

Startle epilepsy, characterized by startle-provoked epileptic seizures, was historically recognized as one of the reflex epilepsies but currently lacks classification as a specific epileptic syndrome because of insufficient characterization. This study presents an institutional experience and review of relevant literature focusing on the neurophysiologic and anatomical aspects of startle epilepsy. We describe a pediatric patient with an underlying structural etiology of left frontal encephalomalacia who continued to experience disabling seizures despite multiple antiseizure medications and previous palliative surgery.

Electrophysiological network predicts clinical response to vigabatrin in epileptic spasms.

Purpose: This study aimed to discover electrophysiologic markers correlated with clinical responses to vigabatrin-based treatment in infants with epileptic spasms (ES).

Method: The study involved a descriptive analysis of ES patients from a single institution, as well as electroencephalogram (EEG) analyses of 40 samples and 20 age-matched healthy infants. EEG data were acquired during the interictal sleep state prior to the standard treatment.

Arterial ischemic stroke in children with congenital heart diseases.

Background: We describe the prevalence, thromboembolic risk factors, and neurologic outcomes in children with congenital heart disease (CHD) and arterial ischemic stroke (AIS).

Methods: We retrospectively analyzed the clinical data of children with CHD and AIS from 2000 to 2016. Demographics, procedural and postprocedural data, neuroimaging findings, details of antithrombotic treatment, and neurological status at last follow up were evaluated.

Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

The complex and evolving nature of clinical phenotypes have made genetically diagnosing pediatric patients with movement disorders difficult. Here, we describe this diverse complexity in the clinical and genetic features of a pediatric cohort examined by whole-exome sequencing (WES) and demonstrate the clinical benefit of WES as a diagnostic tool in a pediatric cohort. We evaluated 75 patients with diverse single or combined movement phenomenologies using WES.

Cleft size and type are associated with development of epilepsy and poor seizure control in patients with schizencephaly.

Purpose: To investigate the relationship between the anatomical features of schizencephaly and characteristics of epilepsy.

Methods: We retrospectively evaluated patients diagnosed with schizencephaly using brain magnetic resonance imaging. Seizure outcomes were evaluated as drug-resistant epilepsy and frequent seizures (more than once a month) during the previous year.

The Role of Focal Epilepsy Features in Defining Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Background And Purpose: This study was aimed to describe focal epilepsy features of mutation-positive Dravet syndrome patients.

Methods: A total of 82 mutation-positive patients were reviewed retrospectively (39 boys and 43 girls). Seizure type and electroencephalography (EEG) findings were investigated according to the stage, disease onset, and steady state (after age 2 years).

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

FOXG1, located at chromosome 14q12, is critical for brain development, and patients with FOXG1 mutation exhibit developmental encephalopathy with high phenotypic variability, known as FOXG1 syndrome. Here, we report 3 cases of FOXG1 syndrome that presented with infantile hypotonia and microcephaly.A total of 145 children with developmental delay and/or hypotonia were evaluated by whole-exome sequencing (WES) in the pediatric neurology clinic and medical genetics center at Asan Medical Center Children's Hospital, from 2017 to 2019.

Clinical and neuropsychological characteristics of children with epilepsy and attention-deficit/hyperactivity disorder.

Objectives: This study aimed to explore the clinical and neuropsychological characteristics-cognition, behavior, parenting-related stress, and sleep-of children with epilepsy, attention-deficit/hyperactivity disorder (ADHD), or both.

Methods: We retrospectively reviewed the electronic medical records of 33 children with epilepsy and ADHD, 113 with epilepsy alone, and 294 with ADHD alone. The children were required to complete the Advanced Test of Attention (ATA), and their parents completed the ADHD Rating Scale (ARS), Child Behavior Checklist (CBCL), Children's Sleep Habits Questionnaire (CSHQ), Disruptive Behavior Disorder (DBD) Scale (DBD), Social Responsiveness Scale (SRS), and Parenting Stress Index-Short Form (PSI-SF).

Hematopoietic Stem Cell Transplantation-Associated Neurological Complications and Their Brain MR Imaging Findings in a Pediatric Population.

Purpose: To determine the prognostic indicators for hematopoietic stem cell transplantation (HSCT)-associated neurological complications, the clinical characteristics and brain magnetic resonance imaging (MRI) lesions in pediatric HSCT recipients were reviewed.

Methods: This retrospective study included 51 patients who had underwent a brain MRI due to newly developed neurological symptoms or infection signs during chemotherapy or HSCT. We reviewed the demographics, received treatments, treatment-related morbidities, laboratory findings and brain MRI findings, which were compared between good and poor neurologic outcome groups.

Over 10-Year Outcomes of Infantile-Onset Epilepsies.

Unlabelled: Seizures in infancy have highly variable courses and underlying etiologies. However, there are only a few long-term follow-up studies regarding infantile-onset epilepsy. Therefore, we aimed to describe the clinical courses, seizure outcomes, and risk factors of infantile-onset epilepsy followed up for more than 10 years in a tertiary center.

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, clinical suspicion is difficult for a physician.

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders.

Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in the pediatric neurology clinic and medical genetics center. The clinical presentation, laboratory findings including the genetic results from WES, and diagnosis-based treatment and outcomes of the four patients are discussed.

Delayed Functional Networks Development and Altered Fast Oscillation Dynamics in a Rat Model of Cortical Malformation.

Malformations of cortical development (MCD) is associated with a wide range of developmental delay and drug resistant epilepsy in children. By using resting-state functional magnetic resonance imaging (RS-fMRI) and event-related spectral perturbation (ERSP) of cortical electroencephalography (EEG) data, we tried to investigate the neural changes of spatiotemporal functional connectivity (FC) and fast oscillation (FO) dynamics in a rat model of methylazoxymethanol (MAM)-induced MCD. A total of 28 infant rats with prenatal exposure to MAM and those of age matched 28 controls with prenatal saline exposure were used.

Treatment of Children and Adolescents with Epilepsy with Atomoxetine.

Objective: The objective of this study was to assess the effectiveness and safety of atomoxetine in Korean children and adolescents with epilepsy.

Methods: We retrospectively reviewed the electronic medical records of 105 children and adolescents with epilepsy treated with atomoxetine. Effectiveness was measured with the Clinical Global Impressions-Severity (CGI-S) and/or Clinical Global Impressions-Improvement (CGI-I) scales at baseline, and after 4 and 12 weeks.

Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years.

This study was to develop tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years. Twelve cognitive training programs (named Injini) were designed comprising cognitive domains that included attention, visual and auditory perception, memory, executive function, language, and reasoning. In addition, programs related to learning experiences, such as self-regulation, role play, learning of number, and letter/shape concepts, comparison, classification, and pattern matching, were included.

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

Background: Ambroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX and enzyme replacement therapy (ERT) in nGD.

Methods: ABX+ERT therapy was administered for 4.

How can methylprednisolone work on epileptic spasms with malformation of cortical development?

Although steroids are suggested as the treatment of choice for infantile spasms, the mechanism of action is still unclear. Using a rat model of malformation of cortical development with refractory infantile spasms, we evaluated the efficacy of methylprednisolone on spasms susceptibility and behaviors. Additionally, we investigated the in vivo electrophysiological and neurochemical changes of the brain after methylprednisolone treatment.

Effects of the Computer Desk Level on the Musculoskeletal Discomfort of Neck and Upper Extremities and EMG Activities in Patients with Spinal Cord Injuries.

Background: Computers are used as a means of social communication, for work and other purposes. However, patients with spinal cord injuries may have a higher risk than normal individuals with musculoskeletal problems when using computers owing to their inability to control respective postures due to problems in motor and sensory functioning.

Objectives: This study is aimed at identifying the effect of computer desk heights on musculoskeletal discomforts of the neck and upper extremities and EMG activities in patients with spinal cord (C6) and upper thoracic spinal cord injuries.

A long-term subacute sclerosing panencephalitis survivor treated with intraventricular interferon-alpha for 13 years.

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal central nervous system disorder resulting from persistent measles virus infection. Long-term data are scarce, with a maximum follow-up period of 10 years. Interferon-alpha (IFN-α) is a protein that exerts its antiviral activity via enhancement of cellular immune response and is reported to be an effective drug for the treatment of SSPE.

Relationship Between Aggravation of Seizures and Methylphenidate Treatment in Subjects with Attention-Deficit/Hyperactivity Disorder and Epilepsy.

Objectives: We aimed to investigate the effectiveness and safety of methylphenidate (MPH), and especially its influence on seizures, in subjects with attention-deficit/hyperactivity disorder (ADHD) and epilepsy through a retrospective chart review of subjects treated with MPH in a clinical setting. We also evaluated factors that could affect seizure aggravation during MPH treatment.

Methods: From April 2004 to July 2011, MPH was prescribed to 105 subjects with ADHD and epilepsy.

Pharmacokinetic and Pharmacodynamic Evaluation of Intravenous Levetiracetam in Children With Epilepsy.

This study aimed to evaluate the safety and tolerability of intravenous (IV) levetiracetam (LEV) as a monotherapy in children aged 1 month-16 years and to explore the pharmacokinetics (PK) of IV LEV and the time to seizure after IV then oral administration of LEV in pediatric children with epilepsy. Children diagnosed with acute unprovoked seizures requiring in-hospital IV LEV administration were included. After administration, the clinical seizure outcomes, side effects, and the Korean-Child Behavior Checklist were monitored and the PK and repeated time to seizure were analyzed via modeling using NONMEM software.

Neurodevelopmental outcomes in children with prenatally diagnosed corpus callosal abnormalities.

Objective: Although corpus callosal abnormalities are among the most common brain malformations detected prenatally, few previous studies have described the neurodevelopmental outcomes of children with this condition. The aim of our study was to evaluate the neurodevelopmental outcomes and associated clinical features of children with corpus callosal abnormalities diagnosed by prenatal ultrasonography.

Methods: Between July 2011 and July 2016, forty-nine children with corpus callosal abnormalities were born in Asan Medical Center Children's Hospital.