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Traditionally, identification of epileptogenic zones primarily relied on visual inspection of intracranial electroencephalography (iEEG) recordings by experienced epileptologists; however, removal of epileptogenic zones identified by iEEG does not always guarantee favorable surgical outcomes. To confirm visual inspection results, and assist in making decisions about surgical resection areas, computational iEEG analysis methods have recently been used for the localization of epileptogenic zones. In this study, we have proposed a new approach for the localization of epileptogenic zones in Lennox-Gastaut syndrome (LGS), and have investigated whether the proposed approach could confirm surgical resection areas and predict seizure outcome before surgery. The proposed approach simultaneously used results of 2 iEEG analysis methods, directed transfer function (DTF) and time delay estimation, to enhance localization accuracy. This new combined method was applied to patients who became seizure-free after resective epilepsy surgery, as well as those who had unsuccessful surgery. A quantitative metric was also introduced that can measure how well the localized epileptogenic zones coincided with the surgical resection areas, with the aim of verifying whether the approach could confirm surgical resection areas determined by epileptologists. The estimated epileptogenic zones more strongly coincided with surgical resection areas in patients with successful, compared to those with unsuccessful surgical outcomes. Both qualitative and quantitative analyses showed that the combined use of 2 iEEG analyses resulted in a more accurate estimate of epileptogenic zones in LGS than the use of a single method. A combination of multiple iEEG analyses could not only enhance overall accuracy of localizing epileptogenic zones in LGS, but also has the potential to predict outcomes before resective surgery.

The permanent impairment evaluation for children in developmental stage is very difficult and it is even impossible in some cases. The impairment evaluation for developing children has not yet been included in the guideline of the American Medical Association. Due to frequent medical and social demands in Korea, we developed an impairment evaluation guideline for motor impairment, intellectual disability/mental retardation, developmental speech-language disorder and epilepsy caused by pediatric cerebral injuries, or cerebral lesions other than the developmental disorders such as autism. With the help of various literature and foreign institutions, we developed our in order to develop a scientific guideline for pediatric impairment that is suited to Korean cultural background and social condition.

We evaluated the long-term outcome of vagus nerve stimulation (VNS) in 28 children with refractory epilepsy. Of these 28 children, 15 (53.6%) showed a >50% reduction in seizure frequency and 9 (32.1%) had a >75% reduction. When we compared seizure reduction rates according to seizure types (generalized vs. partial) and etiologies (symptomatic vs. cryptogenic), we found no significant differences. In addition, there was no correlation between the length of the stimulation period and treatment effect. The seizure reduction rate, however, tended to be inversely related to the seizure duration before VNS implantation and age at the time of VNS therapy. VNS also improved quality of life in this group of patients, including improved memory in 9 (32.1%), improved mood in 12 (42.9%), improved behavior in 11 (39.3%), improved alertness in 12 (42.9%), improved achievement in 6 (21.4%), and improved verbal skills in 8 (28.6%). Adverse events included hoarseness in 7 patients, dyspnea at sleep in 2 patients, and wound infection in 1 patient, but all were transient and successfully managed by careful follow-up and adjustment of parameters. These results indicate that VNS is a safe and effective alternative therapy for pediatric refractory epilepsy, without significant adverse events.

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3+23C>G) was newly identified in three of the patients. IVS3+23C>G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymorphisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.

Purpose: We wished to evaluate the efficacy and safety of the ketogenic diet (KD), and we also evaluated the prognosis of the patients after successful discontinuation of the diet in infants, children, and adolescents with refractory epilepsy., Methods: This was a retrospective study of epilepsy patients treated with the KD during 1995 through 2003 at the Korean multicenters. Outcome measures included seizure frequency, electroencephalography (EEG), adverse reactions, and antiepileptic drug (AED) number. The variables related to the efficacy and prognosis also were analyzed., Results: The outcomes of the 199 patients enrolled in this study at 6 and 12 months after the diet were revealed; 68% and 46% of patients remained on the diet, 58% and 41% showed a reduction of seizure frequency of >50%, including 33% and 25% who became seizure free, respectively. Finally, 66 (34%) of 199 patients successfully completed or maintained the diet. EEGs showed an improvement in background in 40 (72.7%) of 55 patients and a reduction in generalized and focal discharges in 41 (57.7%) of 71 and 15 (33.3%) of 45 patients. Most complications were mild, but five patients died during the KD. No significant variables were related to the efficacy, but those with symptomatic (p=0.047) and partial epilepsies (p=0.073) showed more frequent relapse after completion of the diet., Conclusions: The KD is a safe and effective alternative therapy for intractable childhood epilepsy in Korea, although the customary diet contains substantially less fat than traditional Western diets, but life-threatening complications should be monitored closely during follow-up.