研究者詳細 - 柴田　敬

論文 - 柴田　敬

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Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies 査読

Harumi Yoshinaga, Shunichi Sakoda, Takashi Shibata, Tomoyuld Aldyama, Makio Oka, Jun-Hui Yuan, Hiroshi Takashima, Masanori P. Takahashi, Tetsuro Kitamura, Nagako Murakami, Katsuhiro Kobayashi

PEDIATRIC NEUROLOGY 52 ( 5 ) 504 - 508 2015年5月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：ELSEVIER SCIENCE INC

BACKGROUND: Mutations of the SCN4A gene cause several skeletal muscle channelopathies and overlapping forms of these disorders. However, the variability of the clinical presentation in childhood is confusing and not fully understood among pediatric neurologists. PATIENTS: We found three different mutations (p.V445M, p.I693L, and a novel mutation, p.V1149L) in SCN4A but not in the CLCN1 gene. The patient with p.V445M showed the clinical phenotype of sodium channel myotonia, but her clear symptoms did not appear until 11 years of age. Her younger sister and mother, who have the same mutation, displayed marked intrafamilial phenotypic heterogeneity from mild to severe painful myotonia with persistent weakness. The patient with p.I693L exhibited various symptoms that evolved with age, including apneic episodes, tonic muscular contractions during sleep, fluctuating severe episodic myotonia, and finally episodic paralyses. The patient with the novel p.V1149L mutation exhibited episodic paralyses starting at 3 years of age, and myotonic discharges were detected at 11 years of age for the first time. CONCLUSION: The present cohort reveals the complexity, variability, and overlapping nature of the clinical features of skeletal muscle sodium channelopathies. These are basically treatable disorders, so it is essential to consider genetic testing before the full development of a patient's condition.

DOI： 10.1016/j.pediatrneurol.2015.01.014

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Manifestation of both emetic seizures and sylvian seizures in the same patients with benign partial epilepsy 査読

Harumi Yoshinaga, Katsuhiro Kobayashi, Takashi Shibata, Takushi Inoue, Makio Oka, Tomoyuki Akiyama

BRAIN & DEVELOPMENT 37 ( 1 ) 13 - 17 2015年1月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：ELSEVIER SCIENCE BV

Purpose: Benign childhood epilepsy with centro-temporal spikes (BECTS) and Panayiotopoulos syndrome (PS) have different pathophysiologies and show different types of seizures, yet they overlap in some important respects. In an attempt to understand the ways in which they differ from each other and overlap each other, we performed a detailed investigation on patients who had both characteristic types of seizure manifestations, namely, sylvian seizures and emetic seizures. Subjects and methods: We recruited consecutive subjects from the EEG database of outpatients who had visited our hospital between 2008 and 2010 and who had been diagnosed with BECTS or PS. As a result, 45 patients with BECTS and 50 patients with PS were selected from the database. Viewing the clinical records of these 95 patients, five patients were selected who had experienced both sylvian seizures and emetic seizures. Next, the clinical features and EEG findings of these five patients were retrospectively observed at the date of investigation: October 1, 2011. Results: We found that all the patients showed rolandic spikes when they had sylvian seizures, and occipital spikes or multifocal spikes when they had emetic seizures. We also report in detail on one patient who showed two different types of ictal EEG patterns: one of which started in the occipital area and the other of which was located in the rolandic area. Conclusion: Based on these findings, we conclude that widespread cortical hyperexcitability that includes the occipital area is necessary to produce the autonomic seizure manifestations seen in PS. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2014.01.013

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West syndrome associated with epileptic negative myoclonus 査読

Takashi Shibata, Harumi Yoshinaga, Makio Oka, Katsuhiro Kobayashi

No To Hattatsu 46 ( 5 ) 354 - 358 2014年9月

記述言語：日本語掲載種別：研究論文（学術雑誌）出版者・発行元：Japanese Society of Child Neurology

We report a 10-month-oIcI girl who had brief epileptic negative myoclonus during the course of West syndrome. She began to have epileptic spasms in series at the age of 8 months. Video-elcctroencephalograph (EEG) monitoring revealed that she also had brief epileptic negative myoclonus when she was 10 months old. Brief atonia of limbs occurred in isolation or in a cluster during drowsiness or sleep. The ictal EEG exhibited diffuse polyspikes and waves or diffuse high-voltage slow waves that were overlapped by low-voltage fast waves. 3 to 4 hundred milliseconds of silent periods were observed in the bilateral deltoid electromyograms, which correspond to the EEG patterns.
The occurrence of other types of seizures, partial seizures in particular, accompanied by epileptic spasms has been fully investigated. This is the first case report of a patient with West syndrome whose coexisting epileptic negative myoclonus was confirmed by a silent electromyogram pattern.

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急激な経過で呼吸不全をきたした軸索型ギラン・バレー症候群の1例

柴田敬, 岡牧郎, 小林勝弘, 吉永治美

日本小児科学会雑誌 118 ( 5 ) 844 - 844 2014年5月

当院で半球離断術を行った乳児期発症の難治てんかん6例の検討

柴田敬, 岡牧郎, 上利崇, 遠藤文香, 小林勝弘, 吉永治美, 伊達勲

日本小児科学会雑誌 118 ( 5 ) 854 - 855 2014年5月

外傷を契機に発見されたHunter症候群の1例

兵頭勇紀, 小林勝弘, 桃木恵美子, 柴田敬, 岡牧郎, 吉永治美

脳と発達 45 ( 6 ) 473 - 473 2013年11月

乳児期早期に皮質性ミオクローヌスを認めたDravet症候群の一例

小林由典, 秋山倫之, 中尻智史, 柴田敬, 井上拓志, 小林勝弘, 大守伊織, 大内田守, 吉永治美

臨床神経生理学 41 ( 5 ) 490 - 490 2013年10月

West症候群を発症した46,XY,der(16)t(2;16)(p22;p13.3)の一家系

柴田敬, 岡牧郎, 兵頭勇紀, 秋山倫之, 吉永治美, 小林勝弘

てんかん研究 31 ( 2 ) 474 - 474 2013年9月

小児てんかんの診療実態に関する疫学調査(第1報)

花岡義行, 柴田敬, 岡牧郎, 秋山倫之, 小林勝弘, 吉永治美

脳と発達 45 ( Suppl. ) S236 - S236 2013年5月

Clinical implications of preceding positive spikes in patients with benign partial epilepsy and febrile seizures 査読

Harumi Yoshinaga, Katsuhiro Kobayashi, Tomoyuki Akiyama, Takashi Shibata, Fumika Endoh, Yoko Ohtsuka

BRAIN & DEVELOPMENT 35 ( 4 ) 299 - 306 2013年4月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：ELSEVIER SCIENCE BV

Purpose: To clarify the clinical implications of the preceding positive spikes (PPSs) observed primarily in rolandic spikes, we analyzed PPSs in the rolandic and occipital spikes observed in the electroencephalograms (EEGs) of patients with two types of benign partial epilepsies (benign childhood epilepsy with centro-temporal spikes [BECT] and Panayiotopoulos syndrome [PS]) and febrile seizures (FS). Subjects and methods: We identified patients from our outpatient EEG database that were seen between 2006 and 2008 that had BECT, PS, and FS with rolandic or occipital spikes. We generated an averaged spike for each patient from the rolandic and occipital spikes that were detected using an automatic spike detection and clustering system. We compared the presence rate of the averaged spikes with the PPS among the three groups (BECT vs. PS vs. FS) using sequential mapping. Results: We identified 25 BECT, 18 PS, and 15 FS patients with rolandic spikes. Fifteen BECT and nine PS patients exhibited a PPS in their averaged rolandic spikes, whereas only four FS patients did. Three of these four FS patients later developed afebrile seizures, and one of them was diagnosed as having PS. We analyzed eight PS and six FS patients with occipital spikes. Five PS patients exhibited a PPS in their averaged occipital spikes, whereas only one FS patient did. This FS patient later developed prolonged autonomic febrile seizures. Conclusion: PPSs are observed not only in rolandic spikes associated with BECT that is related strictly to sylvian seizures, but also in rolandic and occipital spikes associated with PS. Although PPSs are rare in such spikes observed in FS, patients with FS and PPSs may have an increased risk of developing afebrile seizures or prolonged autonomic febrile seizures. Further studies are warranted to determine the diagnostic utility of PPSs as a marker of the future development of epilepsy when they are observed in FS patients. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2012.06.006

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小児期発症のナルコレプシーの2例

柴田敬, 岡牧郎, 井上拓志, 小林勝弘, 吉永治美

日本小児科学会雑誌 117 ( 3 ) 653 - 653 2013年3月

Efficacy of topiramate for intractable childhood generalized epilepsy with epileptic spasms: With special reference to electroencephalographic changes

Fumika Endoh, Katsuhiro Kobayashi, Yumiko Hayashi, Takashi Shibata, Harumi Yoshinaga, Yoko Ohtsuka

Seizure 21 ( 7 ) 522 - 528 2012年9月

記述言語：英語掲載種別：研究論文（学術雑誌）

Purpose: Epileptic spasms (ES) beyond infancy are a highly refractory type of seizures that require the development of an effective treatment. We therefore studied the efficacy and safety of topiramate (TPM), which is a drug that is indicated to be effective for intractable childhood epilepsy, for ES. Methods: Out of 58 children with ES, we enrolled 33 patients treated with TPM at ≤12 years of age. The administration of TPM was limited to cases of epilepsies that were resistant to any other potent treatment. We retrospectively investigated the efficacy of TPM for seizures and changes in electroencephalogram (EEG) findings. Results: The median age at the start of TPM treatment was 5 years, 8 months. All patients had ES and 28 also had tonic seizures. As for the efficacy of TPM for all seizures, five patients became seizure-free and two had a ≥50% reduction in seizures. Seizure aggravation was observed in six patients. Of 29 patients whose EEG findings were compared before and during TPM treatment, nine showed EEG improvement with reduced epileptic discharges. Adverse effects were observed in 13 patients and included somnolence, anorexia, and irritability. In general, TPM was well tolerated. Conclusions: TPM can be effective at suppressing very intractable ES in a proportion of patients who do not respond to any other treatment. The efficacy of TPM may be predictable based on EEG changes observed early in the course of treatment. TPM is promising for the treatment of extremely intractable childhood epilepsy and it has largely tolerable adverse effects. © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

DOI： 10.1016/j.seizure.2012.05.009

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Peculiar involuntary movements in premature babies with specific cerebellar injuries 査読

Harumi Yoshinaga, Katsuhiro Kobayashi, Fumika Endoh, Yumiko Ishizaki, Takashi Shibata, Yoko Ohtsuka

No To Hattatsu 44 ( 3 ) 239 - 243 2012年5月

記述言語：日本語掲載種別：研究論文（学術雑誌）

We observed characteristic involuntary movements in premature babies during early infancy. These movements consisted of asymmetrical irregular banging of the extremities, similar to chorea, ballisms, or jitteriness. We investigated the clinical characteristics and neuroimaging findings of the patients with these peculiar involuntary movements to clarify their pathophysiological mechanisms and to find a treatment. In our sequential follow-up study on 90 premature infants with various pre-and perinatal brain insults, we found various types of cerebellar injuries in 28 patients. In 19 of these, the prominent injuries were observed in the inferior cerebellar hemispheres. These cerebellar injuries were often observed in patients born before the gestational age of 27 weeks. Fourteen of the 28 patients with cerebellar injuries displayed the above-mentioned characteristic involuntary movements. Twelve of these 14 patients with both cerebellar injury and involuntary movements were born before the gestational age of 27 weeks. On the contrary, 10 patients with cerebellar injury bom after the gestational age of 27 weeks did not display these peculiar involuntary movements. It is noteworthy that cerebral injuries were not associated with the occurrence of these involuntary movements. Two patients with asymmetrical cerebellar deformity caused by compression due to a cystic lesion did not show these involuntary movements. The movements appeared around the corrected age of 3 months, and they disturbed the patients' acquisition of sitting ability. Nine patients with these involuntary movements developed severe athetotic cerebral palsy. These movements showed drug resistance, however, benzodiazepines had a partial effect in some patients. Recently, cerebellar injury in premature infants has received a lot of attention. We believe that the peculiar involuntary movements we observed in the present patient group may be caused by a particular type of cerebellar damage specific to premature infants born before 27 weeks of gestational age.

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脳梁離断術後に左右独立性のepileptic spasmsを認めたWest症候群の1例

東田好広, 柴田敬, 岡牧郎, 遠藤文香, 小林勝弘, 大塚頌子

てんかん研究 29 ( 2 ) 356 - 356 2011年9月

多彩な発作症状を来した視床下部過誤腫による難治てんかん

柴田敬, 岡牧郎, 福島雅子, 小林勝弘, 大塚頌子

脳と発達 43 ( 1 ) 72 - 72 2011年1月

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