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Hyperekplexia is a rare inherited neurologic disorder that is characterized by hypertonia and an exaggerated startle response to sudden external stimuli. Until now, 5 genes are known to be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. In this report, we performed a clinical and genetic analysis of 4 Korean children with(More)
Ketogenic diet (KD) is known to be effective in intractable epilepsy. However, the role of KD in refractory status epilepticus (RSE) has not been well described. The aim of this study is to explore the role of KD in patients with RSE. We retrospectively reviewed the medical records of four children and one adult with RSE between October 2006 and August(More)
Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several(More)
BACKGROUND AND PURPOSE Rufinamide (RUF) is a novel antiepileptic drug (AED) and its efficacy has been proven in Lennox-Gastaut syndrome (LGS). However, there is a lack of data regarding the efficacy in pediatric intractable epilepsies other than LGS. The purpose of the study was to explore the efficacy and tolerability of RUF in pediatric patients with(More)
BACKGROUND The first episode of central nervous system (CNS) symptoms with a presumed inflammatory demyelinating cause is defined as clinically isolated syndrome (CIS) according to the 2007 consensus of the International Pediatric Multiple Sclerosis Study Group, which developed diagnostic criteria for CNS demyelination disease in children. Using this(More)
PURPOSE This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND METHODS We collected clinical and cytogenetic data based on(More)
Sotos syndrome is an overgrowth syndrome with characteristic facial dysmorphism, variable severity of learning disabilities and macrocephaly with overgrowth. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene located on 5q35 has been implicated as the cause of Sotos syndrome. This study was performed to investigate the(More)
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes intractable seizures, especially in neonates and infants. Patients are typically resistant to typical antiepileptic drugs (AEDs) but respond dramatically to pyridoxine. Mutations in the ALDH7A1 gene are associated with the pathogenesis of PDE. Herein, we report the(More)
PURPOSE A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. METHODS A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. (More)
PURPOSE The semiology of infantile seizures often shows different characteristics from that of adults. We performed this study to describe clinical and ictal characteristics of infantile seizures at less than two years of age. METHODS A retrospective study was done for infants with epilepsy (ages: 1-24months) who underwent long-term video(More)