Language：Japanese   Publisher：(一社)日本小児神経学会  

GABRB3遺伝子は,γ-aminobutyric acid(GABA)A受容体のβ3サブユニットをコードし,その変異は発達性てんかん性脳症の原因となる.我々は,GABRB3遺伝子にNM_000814.5:c.778C>A:p.(Leu260Met)のde novo新規変異を認めた乳児期早期発症難治焦点てんかんの女児を初期から追跡し,特徴的な脳波像を認めた.生後2ヵ月から多焦点起始の発作を発症し,遊走性焦点発作も稀に認めた.発作は難治に経過したが,臭化カリウム(KBr)が著効し,1歳3ヵ月以降は現在4歳5ヵ月に至るまで発作は抑制されている.発作抑制以前に停滞していた発達は,発作抑制後に進み,1歳7ヵ月で独坐,2歳11ヵ月で独立ができるようになった.脳波は,初期の投薬開始前から背景活動で持続性速波が出現し,次第に振幅や頻度を増し,発作が抑制された後も特徴的な異常脳波所見を示した.このような速波活動についてGABRB3関連てんかんで注目した報告はなく,GABA抑制系の機能障害との関係が推測された.また本症例はGABRB3関連てんかんでKBrの有効性を示した最初の報告である.これらの知見はGABRB3関連てんかんの脳波所見の蓄積や治療選択に寄与すると考える.(著者抄録)

researchmap

Other Link： https://search.jamas.or.jp/default/link?pub_year=2023&ichushi_jid=J01232&link_issn=&doc_id=20230511410012&doc_link_id=%2Fcl1nohat%2F2023%2F005503%2F015%2F0212-0216%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcl1nohat%2F2023%2F005503%2F015%2F0212-0216%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Authorship：Lead author   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

DOI： 10.1016/j.seizure.2023.03.014

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

OBJECTIVE: Physiological gamma and ripple activities may be linked to neurocognitive functions. This study investigated the relationship between development and non-epileptic, probably physiological, fast (40-200 Hz) oscillations (FOs) including gamma (40 - 80 Hz) and ripple (80 - 200 Hz) oscillations in scalp EEG in children with neurodevelopmental disorders. METHODS: Participants were 124 children with autism spectrum disorder (ASD) and/or attention deficit/hyperactivity disorder (ADHD). Gamma and ripple oscillations were explored from 60-second-long sleep EEG data in each subject using a semi-automatic detection tool supplemented with visual confirmation and time-frequency analysis. RESULTS: Gamma and ripple oscillations were detected in 25 (20.2%) and 22 (17.7%) children, respectively. The observation of one or more occurrence(s) of ripple oscillations, but not gamma oscillations, was significantly related to lower age at EEG recording (odds ratio, OR: 0.727 [95% confidence interval, CI: 0.568-0.929]), higher intelligence/developmental quotient (OR: 1.041, 95% CI: 1.002-1.082), and lack of a diagnosis with ADHD (OR: 0.191, 95% CI: 0.039 - 0.937) according to a binominal logistic regression analysis that included diagnosis with ASD, sex, history of perinatal complications, history of febrile seizures, and use of a sedative agent for the EEG recording as the other non-significant parameters. Diagnostic group was not related to frequency or power of spectral peaks of FOs. CONCLUSION: The production of non-epileptic scalp ripples was confirmed to be associated with brain development and function/dysfunction in childhood. Further investigation is necessary to interpret all of the information on higher brain functions that may be embedded in scalp FOs.

DOI： 10.1016/j.braindev.2021.05.004

PubMed

researchmap

Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Japan Epilepsy Society  

Perampanel (PER) is a new antiepileptic drug (AED) and a selective non―competitive antagonist against the α―amino―3―hydroxy―5―methyl―4―isoxazolepropionic acid (AMPA) receptor. The effects of PER on Lennox―Gastaut syndrome (LGS) have not been established, and because of its adverse effects of irritability, detrimental effects on cognition and behavior should be anticipated upon its usage for LGS. We report a 22―year―old male patient who had West syndrome at 5 months of age and whose epilepsy was thereafter very resistant to ACTH therapy and numerous AEDs. Tonic seizures began to occur at 2 years of age with the appearance of slow spike―wave complexes and generalized paroxysmal fast activity on electroencephalogram (EEG), which indicated a transition from West syndrome to LGS. At 5 years of age, behavior disorders such as irritability and violent aggressiveness emerged. Occasional focal impaired awareness seizures and myoclonic seizures began at 9 years of age. At 18 years of age, PER was cautiously introduced with a dramatic reduction of seizure frequency and associated improvement of behavioral disorders. In this case, we believe that the amelioration of irritability and aggressive behavior was brought about by the decrease of seizure frequency through the antiepileptic effects of PER, despite its potential to cause irritability.

DOI： 10.3805/JJES.38.36

Scopus

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Renal calcified lesions are known as one of the complications during adrenocorticotropic hormone (ACTH) therapy for intractable epilepsy. However, laboratory changes during the therapy or laboratory features of high-risk cases with renal calcified lesions are yet to be clarified. METHODS: In this study, 43 patients with West syndrome ≤2 years were included. We retrospectively reviewed age and body mass index at the beginning of ACTH therapy, as well as the amount of fluid intake, daily urinary volume, and laboratory data during therapy. In addition, we studied the urinary sediment of the cases with renal calcified lesions diagnosed by computed tomography. RESULTS: After initiating ACTH treatment, urinary calcium (Ca)/creatinine ratio and urinary pH increased within 2 weeks. Urinary crystals and renal tubular epithelial cells (RTECs) in urinary sediment were frequently found in most cases. Urinary Ca levels, proteinuria or frequency of urinary crystals, and number of RTECs in the urinary sediment were significantly higher in patients with epithelial casts (ECs) or hematuria than in patients without these findings. Among the 7 patients who underwent abdominal CT, ECs or hematuria were found only those with renal calcified lesions. These findings suggested that patients with ECs or hematuria were more likely to have calcified lesions. CONCLUSIONS: The risk of renal calcified lesions increases after 2 weeks of ACTH treatment. Abnormal findings in urinary sediments might be an early sign of renal calcification during ACTH therapy.

DOI： 10.1111/ped.14158

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier B.V.  

Objective: We explored fast (40–150 Hz) oscillations (FOs) from the ictal scalp electroencephalogram (EEG) data of myoclonic seizures in pediatric patients to obtain insight into the pathophysiological mechanisms involved in the generation of myoclonic seizures. Subjects and methods: The participants were 21 children (11 boys, 10 girls
age ranging from 5 months to 17 years 2 months) with myoclonic seizures associated with generalized (poly)spike-wave bursts in the ictal EEG data. The patients had heterogeneous etiologies and epilepsy diagnoses. In the ictal data, we detected FOs that clearly showed oscillatory morphology in filtered EEG traces and an outstanding spectral blob in time-frequency analysis. Results: We identified FOs in 61 (88.4%) of all 69 myoclonic seizures. Every patient had at least one myoclonic seizure-associated FO. The observed FOs were embedded in the spike component of (poly)spike-wave discharges, and they had a focal distribution with frontal predominance. They ranged in frequency from 41.0 to 123.0 Hz and involved both the gamma and ripple bands, and their spectral peak frequencies were higher in the group of patients with a genetic background free of apparent fundamental brain pathology than in the group of other patients (p = 0.019). Conclusion: FOs were found to represent at least part of the cortical pathophysiological process in the generation of myoclonic seizures that should involve the thalamocortical network system.

DOI： 10.1016/j.braindev.2018.01.004

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Background We quantified pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) in paired serum and cerebrospinal fluid (CSF) samples from children and investigated the effect of age on the concentrations and CSF-to-serum ratios of these vitamers.
Methods: Serum and CSF samples prospectively collected from 49 pediatric patients were analyzed. PLP, PL, and PA were measured using high-performance liquid chromatography with fluorescence detection, using pre column derivatization by semicarbazide. Effects of age on these vitamers, the PLP-to-PL ratio, CSF-to-serum PLP ratio, and CSF-to-serum PL ratio were evaluated using correlation analysis.
Results: The PLP, PL, and PA concentrations in the serum and CSF were higher at younger ages, except for CSF PA concentrations that were mostly below the limit of detection (< 1.2 nmo1/1). The PLP-to-PL ratios in the serum and CSF correlated positively with age. The CSF-to-serum PLP ratio and CSF-to-serum PL ratio were independent of age.
Conclusions: Age-related changes in PLP, PL, and PA in serum and in CSF from pediatric patients and CSF-toserum ratios of PLP and PL demonstrated in this study will provide valuable information for evaluating PLP supply to the central nervous system from the peripheral blood.

DOI： 10.1016/j.cca.2017.07.032

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

We investigated the relationship between the scalp distribution of fast (40-150 Hz) oscillations (FOs) and epileptogenic lesions in West syndrome (WS) and related disorders. Subjects were 9 pediatric patients with surgically confirmed structural epileptogenic pathology (age at initial electroencephalogram [EEG] recording: mean 7.1 months, range 1-22 months). The diagnosis was WS in 7 patients, Ohtahara syndrome in 1, and a transitional state from Ohtahara syndrome to WS in the other. In the scalp EEG data of these patients, we conservatively detected FOs, and then examined the distribution of FOs. In five patients, the scalp distribution of FOs was consistent and concordant with the lateralization of cerebral pathology. In another patient, FOs were consistently dominant over the healthy cerebral hemisphere, and the EEG was relatively low in amplitude over the pathological atrophic hemisphere. In the remaining 3 patients, the dominance of FOs was inconsistent and, in 2 of these patients, the epileptogenic hemisphere was reduced in volume, which may result from atrophy or hypoplasia. The correspondence between the scalp distribution of FOs and the epileptogenic lesion should be studied, taking the type of lesion into account. The factors affecting scalp FOs remain to be elucidated.

DOI： 10.1002/epi4.12043

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Background: We quantified pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) in the cerebrospinal fluid (CSF) of children and to investigate the effect of age, sex, epilepsy, and anti-epileptic drug (AED) therapy on these vitamers.
Methods: CSF samples prospectively collected from 116 pediatric patients were analyzed. PLP, PI, and PA were measured using high-performance liquid chromatography with fluorescence detection, using pre-column derivatization by semicarbazide. Effects of age, sex, epilepsy, and AEDs on these vitamers and the PLP/PL ratio were evaluated using multiple linear regression models.
Results: The PLP, PL, and PA concentrations were correlated negatively with age and the PLP/PL ratio was correlated positively with age. Multiple regression analysis revealed that the presence of epilepsy was associated with lower PLP concentrations and PLP/PL ratios but sex and AED therapy had no influence on these values. The observed ranges of these vitamers in epileptic and non-epileptic patients were demonstrated.
Conclusions: We showed the age dependence of PLP and PL in CSF from pediatric patients. Epileptic patients had lower PLP concentrations and PLP/PL ratios than non-epileptic patients, but it is unknown whether this is the cause, or a result, of epilepsy. (C) 2016 Elsevier B.V. All rights reserved.

DOI： 10.1016/j.cca.2016.12.027

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Background: We describe a new method for simultaneous measurement of monoamine metabolites (3-0-methyldopa [3-0MD],3-methoxy-4-hydroxyphenylethyleneglycol [MHPG], 5-hydroxyindoleacetic acid [5-HIAA], and homovanillic acid [HVA]) and 5-methyltetrahydrofolate (5-MTHF) and its use on cerebrospinal fluid (CSF) samples from pediatric patients.
Methods: Monoamine metabolites and 5-MTHF were measured by high-performance liquid chromatography with fluorescence detection. CSF samples were prospectively collected from children according to a standardized collection protocol in which the first 1-ml fraction was used for analysis.
Results: Monoamine metabolites and 5-MTHF were separated within 10 min. They showed linearity from the limit of detection to 1024 nmol/l. The limit of quantification of each metabolite was sufficiently low for the CSF sample assay. In 42 CSF samples after excluding cases with possibly altered neurotransmitter profiles, the concentrations of 3-OMD, MHPG, 5-HIAA, HVA, and 5-MTHF showed significant age dependence and their ranges were comparable with the reference values in the literature. The metabolite profiles of aromatic L-amino acid decarboxylase deficiency, Segawa disease, and folate receptor alpha defect by this method were compatible with those in the literature.
Conclusions: This method is a simple means of measuring CSF monoamine metabolites and 5-MTHF, and is especially useful for laboratories not equipped with electrochemical detectors. (C) 2016 Elsevier B.V. All rights reserved.

DOI： 10.1016/j.cca.2016.12.005

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

BACKGROUND: We describe a new method for simultaneous measurement of monoamine metabolites (3-O-methyldopa [3-OMD], 3-methoxy-4-hydroxyphenylethyleneglycol [MHPG], 5-hydroxyindoleacetic acid [5-HIAA], and homovanillic acid [HVA]) and 5-methyltetrahydrofolate (5-MTHF) and its use on cerebrospinal fluid (CSF) samples from pediatric patients. METHODS: Monoamine metabolites and 5-MTHF were measured by high-performance liquid chromatography with fluorescence detection. CSF samples were prospectively collected from children according to a standardized collection protocol in which the first 1-ml fraction was used for analysis. RESULTS: Monoamine metabolites and 5-MTHF were separated within 10min. They showed linearity from the limit of detection to 1024nmol/l. The limit of quantification of each metabolite was sufficiently low for the CSF sample assay. In 42 CSF samples after excluding cases with possibly altered neurotransmitter profiles, the concentrations of 3-OMD, MHPG, 5-HIAA, HVA, and 5-MTHF showed significant age dependence and their ranges were comparable with the reference values in the literature. The metabolite profiles of aromatic l-amino acid decarboxylase deficiency, Segaw

DOI： 10.1016/j.cca.2016.12.005

PubMed

researchmap

Language：Japanese   Publisher：The Japanese Society of Child Neurology  

<p>  Objective: Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by the formation of hamartoma in multiple organ systems of the body. However, without a well-established cooperative system involving related departments, some organ lesions might be overlooked until symptoms appear or even until the disorder progresses. Therefore, the purpose of this study is to investigate the current status of follow-ups in the TSC patients in the Department of Child Neurology at Okayama University Medical Hospital. Methods: We performed a retrospective chart review of 38 patients with TSC who visited our hospital at least twice between January 2005 and December 2014. Patients were between 3 years and 48 years of age at their latest visit. We divided the patients into a child group and an adult group, and investigated the patients' follow-up data while focusing on the various multiorgan systems. Results: The follow-ups were well conducted in the child group in terms of every organ. In the adult group, neuroimaging tests were unsatisfactorily performed. The kidney has not been examined in seven patients more than five years even though these patients all had kidney lesions. The lung was not been examined in 7 out of 14 female patients over 18 years of age who are most at risk for lymphangioleiomyomatosis (LAM). In 12 out of 18 child patients, echocardiograms were performed every few years, while electrocardiograms to assess underlying conduction defects were rarely performed in either age group. Conclusions: In Europe, guidelines for the management of TSC have been well established. However, in our hospital, the multiorgan system follow-up is not satisfactorily performed especially in adult patients. We decided the establishment of a TSC board in our hospital for the management of this multiorgan disorder.</p>

DOI： 10.11251/ojjscn.49.5

PubMed

CiNii Article

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：OKAYAMA UNIV MED SCHOOL  

Electroencephalogram (EEG) data include broadband electrical brain activity ranging from infra-slow bands (&lt;0.1 Hz) to traditional frequency bands (e.g., the approx. 10 Hz alpha rhythm) to high-frequency bands of up to 500 Hz. High-frequency oscillations (HFOs) including ripple and fast ripple oscillations (80-200 Hz and &gt;200/250 Hz, respectively) are particularly of note due to their very close relationship to epileptogenicity, with the possibility that they could function as a surrogate biomarker of epileptogenicity. In contrast, physiological high-frequency activity plays an important role in higher brain functions, and the differentiation between pathological/epileptic and physiological HFOs is a critical issue, especially in epilepsy surgery. HFOs were initially recorded with intracranial electrodes in patients with intractable epilepsy as part of a long-term invasive seizure monitoring study. However, fast oscillations (FOs) in the ripple and gamma bands (40-80 Hz) are now noninvasively detected by scalp EEG and magnetoencephalography, and thus the scope of studies on HFOs/FOs is rapidly expanding.

DOI： 10.18926/AMO/55201

Web of Science

PubMed

researchmap

Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Objective: To describe an assay of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF) of children, to determine reference values, and to report the clinical significance of this assay in metabolic disorders affecting folate transport and metabolism.
Methods: CSF 5MTHF was determined by high-performance liquid chromatography with fluorescent detection in pediatric patients including one with FOLR1 gene mutation and one with methylenetetrahydrofolate reductase (MTHFR) deficiency. CSF total folate was measured using an automated analyzer.
Results: 5MTHF and total folate were determined in 188 and 93 CSF samples, respectively. CSF 5MTHF was high throughout the first six months of life and subsequently declined with age. Reference values of CSF 5MTHF and total folate were determined from 162 and 82 samples, respectively. The patient with FOLR1 gene mutation had extremely low CSF 5MTHF and total folate, though these values normalized after folinic acid supplementation. The patient with MTHFR deficiency had extremely low 5MTHF and moderately low total folate; these values were not associated and showed no significant change after folic acid supplementation.
Conclusions: This 5MTHF assay is simple, rapid, sensitive, reliable, and cost-effective. It will aid in the diagnosis and therapeutic monitoring of metabolic disorders affecting folate transport and metabolism. (C) 2016 Elsevier B.V. All rights reserved.

DOI： 10.1016/j.cca.2016.06.032

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER IRELAND LTD  

Objective: We analyzed the spatial distribution and concordance of fast (&gt;10 Hz) and slow (&lt;5 Hz) electroencephalogram (EEG) components of ictal activities and interictal epileptiform discharges (IIED) recorded by intracranial video EEG (IVEEG) in children with epileptic spasms (ES).
Methods: We studied eight children with ES, who underwent IVEEG before resective surgery for epilepsy. We quantified the root-mean-square (RMS) amplitude of the fast and slow components of ictal activities during ES and IIED. We compared the concordance between the spatial distributions of the fast and slow components of ES and IIED.
Results: There was a larger concordance between the spatial distributions of the fast and slow components in IIED than in ES (p = 0.0206 and 0.0401).
Conclusions: The spatial concordance between the fast and slow EEG components was significantly different between ES and IIED.
Significance: The mechanisms underlying the generation of slow EEG components may differ between ES and IIED. The slow EEG components of ES might indicate an extensive epileptic network involving remote symptomatic zones for ES in either the cortical or subcortical areas. The high spatial concordance between the fast and slow components of IIED suggests the involvement of a local inhibitory process within the epileptic cortex. (C) 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

DOI： 10.1016/j.clinph.2014.12.005

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.

DOI： 10.1038/hgv.2015.48

PubMed

researchmap

Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Purpose: Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. Subjects and methods: We identified five pediatric patients with ictal fear who were followed up on at Okayama University Hospital between January 2003 and December 2012. We retrospectively reviewed their clinical records and EEG findings. Results: The onset age of epilepsy ranged from 8 months to 9 years and 10 months. The common ictal symptoms were sudden fright, clinging to someone nearby, and subsequent impairment of consciousness, which were often accompanied by complex visual hallucinations and psychosis-like complaints. Ictal fear, in four patients, was perceived as a nonepileptic disorder by their parents. Ictal electroencephalograms (EEG) of ictal fear were obtained in all patients. Three showed frontal onset, while the other two showed centrotemporal or occipital onsets. Two patients were seizure free at last follow-up, while seizures persisted in the other three. A patient with seizure onset during infancy had a favorable outcome, which was considered to be compatible with benign partial epilepsy with affective symptoms. Conclusion: Ictal fear is not always associated with a symptomatic cause or a poor seizure outcome. It is quite important to make a correct diagnosis of ictal fear as early as possible to optimize treatment. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2013.11.011

Web of Science

PubMed

researchmap

Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：OKAYAMA UNIV MED SCHOOL  

Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. The key feature that characterizes DS is fever sensitivity, although photosensitivity and pattern-sensitivity are also often seen. The prognosis is unfavorable in most cases. Seizures become drug-resistant and persist, with many patients suffering from motor and cognitive impairment. Mutations of SCN1A, which encodes the voltage-gated sodium channel Na(v)1.1, are the most frequent genetic cause of this syndrome. SCN1A mutations and/or microchromosomal rearrangements involving SCN1A are detected in about 85% of patients. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might account for 5% of overall DS cases. Thirty years after its first description, DS is considered as a model of channelopathy. This survey reviews recent developments in the research literature on DS, focusing on the clinical course, as well as its genetic causes.

DOI： 10.18926/AMO/48961

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

We report on an 18-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) (number of CAG repeats: 68) with progressive myoclonus epilepsy (PME), who showed a dramatic response to levetiracetam in terms of the intensity of myoclonus. He began to have convulsive seizures and myoclonus at 7 and 10 years of age, respectively, and his intelligence deteriorated from 12 years of age. EEG showed multifocal and diffuse spike-and-wave complexes. His convulsive seizures were suppressed from 13 years of age.
At 17 years of age, the patient showed gradual intensification of erratic segmental positive myoclonus as well as frequent atonic falls that were probably attributable to negative myoclonus. Back averaging of EEG data revealed cortical discharges associated with positive myoclonus. Photosensitive myoclonic seizures were also observed. The administration of levetiracetam alleviated positive myoclonus and suppressed atonic falls, resulting in a remarkable improvement in the patient's quality of daily life.
Reports on the efficacy of levetiracetam for myoclonus in DRPLA are still rare, though its effect on PM E is known in the context of other neurological disorders. Thus levetiracetam should be subjected to clinical trials as a means of disabling myoclonus in DRPLA. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2011.07.013

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Epileptic spasms in older children have increasingly been recognized as a distinct seizure type and subset of these patients are considered for surgical resection. This study compares histopathology and magnetic resonance imaging (MRI), especially focusing the difference between the cortical grey matter and the subcortical white matter to understand the extensive epileptic brain in patients with epileptic spasms. We examined 22 patients consisting of 11 patients with epileptic spasms and 11 with partial seizures. Scalp video electroencephalography (EEG) showed interictal generalized epileptiform discharges (9 patients with epileptic spasms vs. 1 with partial seizures) and ictal generalized epileptiform discharges (10 vs. 3). We found MRI abnormalities in a single lobe (6 vs. 7) and multiple lobes (2 vs. 1). Surgical resections were performed across multiple lobes (9 vs. 2), comparing within a single lobe (2 vs. 9), (p &lt; 0.001). Histopathology showed abnormal cortical organizations as FCD (2 vs. 5) and microdysgenesis (4 vs. 4), normal (4 vs. 1). Two patients with epileptic spasms showed hyaline proteoplasmic astrocytopathy. There were heterotopic neurons (10 vs. 10), cluster of oligodendroglia (8 vs. 7), balloon cells (2 vs. 5) and blurred myelination (1 vs. 4), in the white matter. Seizure-free outcomes were seen in seven patients with epileptic spasms (64%) and four with partial seizures (36%). The multilobar epileptogenic zones existed in patients with epileptic spasms, compared with the focal epileptogenic zone in patients with partial seizures. There was no difference of MRI and histopathology findings in cortex and subcortical white matter between two groups. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2011.03.009

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER IRELAND LTD  

Objective: We determined whether kurtosis analysis of intracranial electroencephalogram (EEG) can estimate the localization of the epileptogenic zone.
Methods: We analyzed 29 pediatric epilepsy patients who underwent intracranial EEG before focal resective surgery. We localized the brain regions with high kurtosis, the seizure onset zone (SOZ) and the regions with high-rate, high-amplitude and long-duration interictal paroxysms &gt;= 20 Hz. We tested correlations between the surgical resection of those regions and post-surgical seizure outcome, and correlations between kurtosis and the rate/amplitude/duration of interictal paroxysms.
Results: The resection of the regions with high kurtosis correlated with 1-year post-surgical seizure outcome (p = 0.028) but not with 2-year outcome. Kurtosis showed more significant correlation with 1-year seizure outcome than the SOZ and the rate/amplitude/duration of interictal paroxysms. Kurtosis showed positive, independent correlations with the amplitude and duration of interictal paroxysms (p &lt; 0.0001) but not with the rate (p = 0.4).
Conclusions: The regions with high kurtosis provide more reliable information to predict seizure outcome than the SOZ and the regions with high-rate/amplitude and long-duration interictal paroxysms. Kurtosis reflects combined effects of the amplitude and duration of the interictal paroxysms.
Significance: High kurtosis suggests the regions with acquired ictogenicity within the irritative zone. (C) 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

DOI： 10.1016/j.clinph.2011.05.026

Web of Science

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

Purpose: High-frequency oscillations (HFOs), termed ripples at 80-200 Hz and fast ripples (FRs) at &gt;200/250 Hz, recorded by intracranial electroencephalography (EEG), may be a valuable surrogate marker for the localization of the epileptogenic zone. We evaluated the relationship of the resection of focal brain regions containing high-rate interictal HFOs and the seizure-onset zone (SOZ) determined by visual EEG analysis with the postsurgical seizure outcome, using extraoperative intracranial EEG monitoring in pediatric patients and automated HFO detection.
Methods: We retrospectively analyzed 28 pediatric epilepsy patients who underwent extraoperative intracranial video-EEG monitoring prior to focal resection. Utilizing the automated analysis, we identified interictal HFOs during 20 min of sleep EEG and determined the brain regions containing high-rate HFOs. We investigated spatial relationships between regions with high-rate HFOs and SOZs. We compared the size of these regions, the surgical resection, and the amount of the regions with high-rate HFOs/SOZs within the resection area with seizure outcome.
Key Findings: Ten patients were completely seizure-free and 18 were not at 2 years after surgery. The brain regions with high-rate ripples were larger than those with high-rate FRs (p = 0.0011) with partial overlap. More complete resection of the regions with high-rate FRs significantly correlated with a better seizure outcome (p = 0.046). More complete resection of the regions with high-rate ripples tended to improve seizure outcome (p = 0.091); however, the resection of SOZ did not influence seizure outcome (p = 0.18). The size of surgical resection was not associated with seizure outcome (p = 0.22-0.39).
Significance: The interictal high-rate FRs are a possible surrogate marker of the epileptogenic zone. Interictal ripples are not as specific a marker of the epileptogenic zone as interictal FRs. Resection of the brain regions with high-rate interictal FRs in addition to the SOZ may achieve a better seizure outcome.

DOI： 10.1111/j.1528-1167.2011.03199.x

Web of Science

PubMed

researchmap

Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

P&gt;Purpose:
We intended to elucidate the whole clinical course of Dravet syndrome (DS) comprehensively, from infancy through adulthood.
Methods:
Subjects were 31 patients with DS (14 with typical DS, and 17 with borderline DS) who were followed from childhood to at least 18 years of age. Their seizures, abilities, and electroencephalography (EEG) findings were investigated and statistically analyzed.
Results:
The clinical findings of the patients with typical DS and those with borderline DS became largely similar in adolescence and adulthood. Seizures were intractable in childhood in all patients, but suppressed in five (16.1%) during follow-up. Thirty-five (87.5%) of the 40 apparently generalized convulsive seizures that were captured by ictal EEG recording at 7 years of age or later were of focal origin. The seizure-free outcomes were significantly correlated with the experience of &lt; 3 episodes of convulsive status epilepticus, and also with disappearance of spikes on the follow-up EEGs. Mental outcomes involving less severe intellectual disability were correlated with the presence of occipital alpha rhythms in the background activity of the follow-up EEGs. Mean age at the recording of the follow-up EEGs was 23.8 years.
Discussion:
Prevention of the occurrence of convulsive status epilepticus was indicated to be critically important for the improvement of seizure prognosis in DS.

DOI： 10.1111/j.1528-1167.2009.02466.x

Web of Science

PubMed

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本定位・機能神経外科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

ペランパネル(PER)は選択的AMPA受容体拮抗作用を有する新規抗てんかん薬であるが、Lennox-Gastaut症候群(LGS)に対する効果は未確定で、易刺激性の副作用もあり精神・行動に対する影響が危惧される。本症例は22歳男性で、生後5ヵ月にWest症候群を発症した。ACTH療法や各種抗てんかん薬の治療に抵抗した。2歳頃から強直発作が出現し、脳波で緩徐性棘徐波複合、全般性突発性速律動を認めLGSへの変容を示した。5歳より易興奮性、攻撃的行動異常が出現し、9歳より焦点意識減損発作、ミオクロニー発作も認めた。18歳時にPERを副作用に注意しつつ慎重に開始した所、発作は著減し脳波も改善し、同時に易興奮性、攻撃的行動異常も著明に軽減した。易刺激性が懸念されるPERであるが、本症例では激しいてんかん発作に伴い増悪していた易興奮性や行動異常が本剤による発作改善を通して改善したと思われる。(著者抄録)

researchmap

Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2020&ichushi_jid=J01742&link_issn=&doc_id=20200715050005&doc_link_id=10.3805%2Fjjes.38.36&url=https%3A%2F%2Fdoi.org%2F10.3805%2Fjjes.38.36&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_2.gif

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

てんかん焦点切除手術は、難治てんかん患者において根治が期待できる治療法であり、脳が発展途上にある小児では、手術の機会を逃さないことが一層重要である。小児の発作時脳波の解析において、乳幼児では焦点てんかんであっても成人と異なり発作症状が多彩かつ非定型的でわかりにくいこと、MRI上病変の局在が明らかであっても、脳波上は全般性、多焦点性の異常を示すことがあること、脳の発達に応じて発作型・脳波所見が急速に変化しうることなどが注意点として挙げられる。また、小児では、指示に従うことが難しいため、慢性頭蓋内電極留置がためらわれるが、脳神経外科、麻酔科との連携のもと、鎮静下で成人例と同等の解析を行うことが可能であった。頭皮上脳波では焦点が不明瞭であった症例においても、慢性頭蓋内脳波記録によりこれを正確に同定することも可能である。小児のてんかん外科症例の発作時脳波解析の実際を、具体例を示しながら概説する。(著者抄録)

researchmap

Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2019&ichushi_jid=J03414&link_issn=&doc_id=20190422340008&doc_link_id=%2Fff2rinsy%2F2019%2F004702%2F009%2F0119-0125%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fff2rinsy%2F2019%2F004702%2F009%2F0119-0125%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(株)東京医学社  

＜Key Points＞(1)けいれんを主訴とするてんかん症候群は種々あるが、急性症候性発作や状況関連性発作は除外する。(2)てんかん発作型およびてんかん症候群分類が、治療方針決定の基本になる。(3)適切な2〜3剤以上のAED治療を試しても発作抑制にいたらない場合は専門医に紹介する。(著者抄録)

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(株)メディカ出版  

＜check point＞てんかん発作に遭遇した場合、看護師は患者の安全面に配慮し、まずは見守ります。てんかん発作は自然に止まることが多いですが、処置を要する状況は知っておきましょう。日常生活に過度な制限を強いることのないように、患者家族・医療者・学校間の情報共有が重要です。(著者抄録)

researchmap

Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2017&ichushi_jid=J01883&link_issn=&doc_id=20171124210014&doc_link_id=%2Fao7brnui%2F2017%2F003312%2F016%2F1201-1203%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fao7brnui%2F2017%2F003312%2F016%2F1201-1203%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Language：English   Publishing type：Research paper, summary (international conference)   Publisher：WILEY  

Web of Science

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2017&ichushi_jid=J01232&link_issn=&doc_id=20171113290018&doc_link_id=10.11251%2Fojjscn.49.429&url=https%3A%2F%2Fdoi.org%2F10.11251%2Fojjscn.49.429&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publisher：日本先天代謝異常学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：English   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

【目的】結節性硬化症(TSC)は多臓器に過誤組織を発生する疾患である。したがって多くの診療科が協力して診療に当たる必要がある。そこで、その実態を把握するために以下の検討を行った。【方法】対象は岡山大学病院小児神経科を受診したTSC症例のうち複数年にわたって来院歴のある38例とした。各臓器のフォローアップ状況を小児群と成人群に分けて後方視的に検討した。【結果】小児期には比較的どの臓器も確実にフォローが行われていた。成人群では脳の画像のフォローは上衣下巨星細胞腫(SEGA)のある症例も含めて不完全であった。腎臓は、成人群では異常のあった7例においても5年以上フォローがされていなかった。肺はリンパ脈管筋腫(LAM)の合併率の高くなる18歳以上の女性においても検査率は50%であった。心臓は小児群では横紋筋腫のある12例中10例が1〜3年ごとのエコー検査を受けていたが、一方で伝導障害に関しての心電図の施行は全年齢でおろそかであった。【結論】欧米でのガイドラインに照らし合わせてみると、フォローアップ体制は特に成人群において不完全であることが明らかとなった。TSCボードなどの多数科の医療連携体制の場が必要と考えられた。(著者抄録)

DOI： 10.11251/ojjscn.49.5

CiNii Article

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(株)診断と治療社  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(株)東京医学社  

＜Key Points＞(1)体温上昇時にけいれん性てんかん重積状態をくり返す乳児では、この病型をまず疑う。(2)経過中、多彩な発作型が出現しうるが、いずれの発作型も難治である。(3)SCN1A遺伝子変異が高率に検出されるが、遺伝子型と表現型の関連は十分には解明されていない。ほかの修飾因子や遺伝子学的基盤の存在が想定されている。(著者抄録)

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(株)メディカルレビュー社  

CiNii Article

CiNii Books

researchmap

Other Link： http://search.jamas.or.jp/link/ui/2014214454

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap

Language：Japanese   Publisher：(株)新興医学出版社  

＜ポイント＞●状況関連性発作・偽発作の鑑別(除外)を行った後、てんかんの診断を行う。●てんかん発作型の分類診断を発作症状、脳波所見などからまず行う。2010提案では、全般発作、焦点発作、分類不明の発作(てんかん性スパズム)に分ける。●次に、てんかんの分類診断を行う。2010提案では1989分類の主体であった、(1)脳波・臨床症候群に加えて、(2)明確な特定症状群、(3)構造的/代謝性てんかん、(4)原因不明のてんかんといった用語と概念が追加された。●原因・病態診断を積極的に行い、世界的に知識の蓄積を行うことで新たな明確な特定症状群が確立され、固有の有効な治療法が見出されることが期待される。(著者抄録)

researchmap

Language：Japanese   Publisher：(公社)日本小児科学会  

researchmap

Language：Japanese   Publisher：(一社)日本臨床神経生理学会  

researchmap

Language：English   Publisher：(一社)日本てんかん学会  

researchmap

Language：Japanese   Publisher：岡山医学会  

researchmap

Language：Japanese   Publisher：岡山医学会  

researchmap

Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2011&ichushi_jid=J00175&link_issn=&doc_id=20110816290002&doc_link_id=10.4044%2Fjoma.123.91&url=https%3A%2F%2Fdoi.org%2F10.4044%2Fjoma.123.91&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publisher：(一社)日本小児神経学会  

researchmap