-
[show abstract]
[hide abstract]
ABSTRACT: 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 electroencephalography (EEG) monitoring at Samsung medical center between November 1994 and February 2012. We analyzed the clinical and ictal characteristics of the 56 cases from 51 patients. RESULTS: In 69% of the patients, the seizure onset was before six months of age and the etiology was symptomatic in one third of the patients. Twelve seizure types were identified; spasms (24%), unilateral motor seizures (18%), and generalized tonic seizures (15%) were the three frequent types of seizure. All partial seizures were well correlated with the partial-onset ictal EEG, however 19.4% (7/36) of clinically generalized seizures revealed partial-onset ictal EEG. About one-thirds (4/11) of generalized tonic seizures had its ictal onset on unilateral or bilateral frontal areas and two out of seven generalized myoclonic seizures showed unilateral frontal rhythmic activities. Hypomotor seizures mainly arose from the temporal areas and hypermotor seizures from the frontal regions. CONCLUSIONS: Even though most of the seizure semiology of infants is well correlated with ictal EEG, some of the generalized tonic seizures or myoclonic seizures revealed partial-onset ictal EEG suggesting localized epileptic focus. Accurate definition of seizures via video EEG monitoring is necessary for proper management of seizures in infancy, especially in some clinically generalized seizures.
Brain & development 03/2013; · 1.74 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: 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 hyperekplexia. Two patients had typical clinical manifestations of hyperekplexia that initially were misdiagnosed as epilepsy. Direct sequencing of the GLRB and GLRA1 genes revealed 2 novel mutations, GLRB c.298-1G>A and c.1028C>T (p.S343F), in patient 1 and 1 novel mutation, GLRA1 c.895C>T (p.R299X), in patient 2. The other 2 familial cases, patients 3 and 4, exhibited startle responses, which appeared at the age of 1 year, and had global developmental delay. Those patients showed negative results for the 5 genes.
Journal of child neurology 04/2012; · 1.59 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
Journal of Korean medical science 03/2012; 27(3):274-80. · 0.84 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: 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 clinical phenotypes and disease-causative mutations in the ALDH7A1 gene in three Korean patients with PDE. We reviewed the medical records, electroencephalography (EEG), brain magnetic resonance imaging (MRI) findings, and the results of molecular genetic tests for the patients who were diagnosed with PDE in our institution between Jan. 1996 and Dec. 2010. In all patients, the first seizures began during the first week of life. The seizures were not fully controlled with multiple AEDs, but disappeared immediately after administration of pyridoxine and returned after it was transiently discontinued. Before the use of pyridoxine, interictal EEGs showed multifocal epileptiform discharges, which became normalized with pyridoxine. Direct sequencing analyses revealed two mutant alleles in all three patients. Patient 1 was compound heterozygous with two different missense mutations, c.1061A>G (p.Y354C) and c.1232C>T (p.P411L). Patient 2 was homozygous for a missense mutation, c.1279G>C (p.E427Q). Patient 3 was compound heterozygous for two different missense mutations, c.1061A>G (p.Y354C) and c.1279G>C (p.E427Q), and her parents and younger brother were heterozygous carriers of each one of the mutations. All three mutations had not previously been reported. Herein, we report three Korean patients with three novel mutations who presented with PDE.
Annals of clinical and laboratory science 01/2012; 42(1):65-72. · 0.96 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: 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 2010. All presented with status epilepticus (SE) that was presumed to be associated with viral encephalitis. After we failed to control the seizures with standard measures for SE, we tried KD. The overall seizure frequency decreased to <50% of baseline in median eight (1-19) days. At one month of KD, two patients were seizure-free, one patient showed >90% seizure reduction, and the others had >75% decrease without generalized seizures. With improvement in the RSE, we were able to taper the antiepileptic drugs (AEDs) and wean patients from prolonged mechanical ventilation. The adverse events of KD in RSE included aspiration pneumonia, gastroesophageal reflux, constipation, and hypertriglyceridemia. Those results demonstrate that KD can be a valuable therapeutic option for patients with RSE.
Epilepsia 11/2011; 52(11):e181-4. · 3.96 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: This study compared the fracture resistances and the failure patterns of 100 simulated mandibular premolars of a different number of coronal walls (zero to four walls) with or without fiber-reinforced composite (FRC) posts. In addition, the photoelastic stress distribution was analyzed.
The fracture resistance was measured at a 45 degrees angle with a crosshead speed of 1mm/min, and the failure patterns were observed. The photoelastic stress distribution of specimens with or without FRC posts was also evaluated. The fracture resistance was analyzed by analysis of variance and a Duncan's multiple range test (p<0.05).
In the no post groups, the fracture resistances decreased significantly in groups with two or fewer walls. The FRC post increased fracture resistances significantly, except for the zero-wall group, and optimized the failure patterns. A high stress concentration was observed along the canal space in the no post groups; stress seemed to be distributed in post groups in photoelasticity.
Within the limitation of the experimental methods of this study, the FRC post was advantageous in lower premolars, especially with two or more walls in terms of the fracture resistance and stress distribution.
Journal of endodontics 02/2010; 36(2):297-301. · 2.95 Impact Factor
