• Clinical and Experimental Pediatrics
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• v.61 no.4
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• pp.101-107
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• 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

• Journal of Society of Preventive Korean Medicine
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• v.14 no.2
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• pp.135-148
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• 2010

The major purpose of this study is to evaluate the classification of epileptic seizure types and epilepsy described in the literatures of both Western and East Asian medicine, especially based on the two criteria- a theoretical and a practical aspect of the classification systems. Currently, the 1981 classification of epileptic seizure types, and the 1989 classification of epilepsy syndromes and epilepsies which were proposed and approved by the International League Against Epilepsy(ILAE) have been generally accepted worldwide, although a variety of modifications have been consistently suggested. A large proportion of epilepsy cases cannot be easily classified as either 'focal' or 'generalized' or as either 'symptomatic' or 'idiopathic', so they fail to be precisely fallen into any of the ILAE categories. Terms and concepts used in the East Asian medicine are also inadequate to identify epileptic seizure types and epilepsy syndromes as discrete diagnostic entities because of ambiguities in definition and use. Therefore, this article suggests an alternative approach not only more helpful in understanding mechanism of epilepsy but also more easily applicable and effective in clinical value.

• Annals of Clinical Neurophysiology
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• v.9 no.2
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• pp.63-68
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• 2007

The EEG plays an important diagnostic role in epilepsy and provides supporting evidence of a seizure disorder as well as assisting with classification of seizures and epilepsy syndromes. There are a variety of electroclinical syndromes that are really defined by the EEG such as Lennox-Gastaut syndrome, benign rolandic epilepsy, childhood absence epilepsy, juvenile myoclonic epilepsy and also for localization purposes, it is vitally important especially for temporal lobe epilepsy. The sensitivity of first routine EEG in diagnosis of epilepsy has been known about 20-50%, but this proportion rises to 80-90% if sleep EEG and repetitive recording should be added. Convincing evidences suggest that the EEG may also provide useful prognostic information regarding seizure recurrence after a single unprovoked attack and following antiepileptic drug (AED) withdrawal. Moreover, patterns in the EEG make it possible to disclose an ictal feature of nonconvulsive status epilepticus, separate epileptic from other non-epileptic episodes and clarify the clues predictive of the cause of the encephalopathy (i.e., triphasic waves in metabolic encephalopathy). Therefore, regardless of its low sensitivity and other pitfalls, EEG should be considered not only in the situation of new onset episode such as a newly developed, unprovoked seizure or a condition manifesting decreased mentality from obscure origin, but also as a barometer of the long-term outcome following AED withdrawal.

• Clinical and Experimental Pediatrics
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• v.63 no.8
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• pp.291-300
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• 2020

Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are quite dependent on antibody testing and responses to immunotherapy, which might delay the diagnosis. This form of encephalitis can involve the multifaceted presentation of seizures and unexpected behavioral changes. The spectrum of neuropsychiatric symptoms in children is less definitive than that in adults, and the incorporation of clinical, immunological, electrophysiological, and neuroradiological results is critical to the diagnostic approach. In this review, we document the clinical and immunologic characteristics of autoimmune encephalitis known to date, with the goal of helping clinicians in differential diagnosis and to provide prompt and effective treatment.

• Journal of Korean Neurosurgical Society
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• v.62 no.3
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• pp.344-352
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• 2019

Epilepsy is one of the major chronic neurological diseases affecting many patients. Resection surgery is the most effective therapy for medically intractable epilepsy, but it is not feasible in all patients. Vagus nerve stimulation (VNS) is an adjunctive neuromodulation therapy that was approved in 1997 for the alleviation of seizures; however, efforts to control epilepsy by stimulating the vagus nerve have been studied for over 100 years. Although its exact mechanism is still under investigation, VNS is thought to affect various brain areas. Hence, VNS has a wide indication for various intractable epileptic syndromes and epilepsy-related comorbidities. Moreover, recent studies have shown anti-inflammatory effects of VNS, and the indication is expanding beyond epilepsy to rheumatoid arthritis, chronic headaches, and depression. VNS yields a more than 50% reduction in seizures in approximately 60% of recipients, with an increase in reduction rates as the follow-up duration increases. The complication rate of VNS is 3-6%, and infection is the most important complication to consider. However, revision surgery was reported to be feasible and safe with appropriate measures. Recently, noninvasive VNS (nVNS) has been introduced, which can be performed transcutaneously without implantation surgery. Although more clinical trials are being conducted, nVNS can reduce the risk of infection and subsequent device failure. In conclusion, VNS has been demonstrated to be beneficial and effective in the treatment of epilepsy and various diseases, and more development is expected in the future.

• Annals of Clinical Neurophysiology
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• v.9 no.2
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• pp.59-62
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• 2007

Electroencephalogram (EEG) is an indispensable tool for diagnosis of epilepsy and is the only assisting barometer of complete remission of epilepsy, which means prolonged, persistent suppression of cortical excitement in epileptic focus in addition to the clinical control of epileptic seizure. The specific morphologies or distribution of epileptic form discharges give us good information for the classification of seizure or epilepsy and epileptic syndromes, which consists of "Pros." in terms of diagnostic approach. In contrast, the EEG as a tool for long-term follow up might be limited due to the various clinical situation of each patient, which consists of "Cons." in terms of the usefulness of EEG for clinical decision. "Cons." aspect of EEG, which clinicians are more frequently coped with than those of "Pros", is an obstacle of utilization of follow up EEG in clinical practice. This is an overview about controversies in usefulness of EEG and the detailed aspects of "Pros." and "Cons." of EEG for clinical decision will be discussed following two articles. We tried to make consensus for the usefulness of EEG especially in the situation of "Cons." with plausible guideline.

• Annals of Clinical Neurophysiology
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• v.4 no.1
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• pp.51-55
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• 2002

Background : An increased frequency of reproductive endocrine disorders and polycystic ovary(PCO) has been reported in women with epilepsy. A possible role of the seizure disorder or, of the use of antiepileptic drugs(AEDs) has been suggested as the pathogenic mechanism. The objective of the present study was to assess the prevalence of reproductive endocrine disorders, such as PCO or menstrual abnormalities, in a series of women with epilepsy, examining the possible relationships of these disturbances with different epilepsy syndromes and AED treatment. Methods : Thirty epileptic women, all of reproductive age and none pubertal, pregnant, or lactating, were evaluated by clinical endocrinological assessment, and pelvic ultrasonography. Seven patients were on valproic acid(VPA), nineteen on carbamazepine(CBZ), and four on diphenylhydantoin(DPH) treatment, respectively. Results : Menstrual irregularity was observed in 8 women(26.7%), dysmenorrhea in 7(23.3%), and premenstrual syndrome in 1(3.3%). Ultrasonographic examination revealed that one women(3.3%) showed polycystic ovary, 4(13.3%) had ovarian cyst(s), and 2(6.7%) had uterine myoma, respectively. There was no difference in the prevalence of menstrual abnormalities or polycystic ovary according to the different preparations of AEDs. Conclusions : Data from this investigation suggest that, in Korean reproductive age women, the treatment of AEDs and the kind of medication may not have a significant effect on the prevalence of menstrual abnormalities or ultrasonographic polycystic ovary.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• Clinical and Experimental Pediatrics
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• v.55 no.12
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• Proceedings of the KOSOMBE Conference
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• v.1997 no.05
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• pp.116-118
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• 1997

In hippocampal morphology Abnormalities, including unilateral or bilateral volume loss, are known to occur in epilepsy, Alzheimer's disease, and in certain amnestic syndromes. To detect such abnormalities in hippocampal morphology, we present a method that combines region growing and dynamic contour model to detect hippocampus from MRI brain data. The segmentation process is performed two steps. First region growing with a seed point is performed in the region of hippocampus and the initial contour of dynamic contour model is obtained. Second, the initial contour is modified on the basis of criteria that integrate energy with contour smoothness and the image gradient along the contour. As a result, this method improves fairly sensitivity to the choice of the initial seed point, which is often seen by conventional contour model. The power and practicality of this method have been tested on two brain datasets. Thus, we have developed an effective algorithm to extract hippocampus from MRI brain data.