| タイトル（別表記） | Progressive myoclonus epilepsy |
|---|---|
| 著者 | 小林 勝弘| |
| キーワード | 難治てんかん ミオクローヌス 失調 知的退行 ポリグラフ |
| 出版物タイトル | 岡山医学会雑誌 |
| 発行日 | 2024-04-01 |
| 巻 | 136巻 |
| 号 | 1号 |
| 開始ページ | 22 |
| 終了ページ | 25 |
| ISSN | 0030-1558 |
| 関連URL | isVersionOf https://doi.org/10.4044/joma.136.22 |
| 言語 | 日本語 |
| 著作権者 | Copyright (c) 2024 岡山医学会 |
| 論文のバージョン | publisher |
| DOI | 10.4044/joma.136.22 |
| フルテキストURL | fulltext20240508-01.pdf fig1_20240508-01.pdf fig2_20240508-01.pdf |
|---|---|
| 著者 | Akiyama, Tomoyuki| Saigusa, Daisuke| Inoue, Takushi| Tokorodani, Chiho| Akiyama, Mari| Michiue, Rie| Mori, Atsushi| Hishinuma, Eiji| Matsukawa, Naomi| Shibata, Takashi| Tsuchiya, Hiroki| Kobayashi, Katsuhiro| |
| キーワード | Amino acids Gas chromatography Liquid chromatography Mass spectrometry New-onset epilepsy |
| 備考 | © 2023 The Japanese Society of Child Neurology. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/| This fulltext file will be available in Mar. 2025.| |
| 発行日 | 2024-04 |
| 出版物タイトル | Brain and Development |
| 巻 | 46巻 |
| 号 | 4号 |
| 出版者 | Elsevier BV |
| 開始ページ | 180 |
| 終了ページ | 186 |
| ISSN | 0387-7604 |
| NCID | AA00111153 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2023 The Japanese Society of Child Neurology. |
| 論文のバージョン | author |
| PubMed ID | 38171994 |
| DOI | 10.1016/j.braindev.2023.12.004 |
| Web of Science KeyUT | 001208667900001 |
| 関連URL | isVersionOf https://doi.org/10.1016/j.braindev.2023.12.004 |
| タイトル（別表記） | Child neurology and childhood-onset intractable diseases |
|---|---|
| 著者 | 小林 勝弘| |
| キーワード | 指定難病 小児慢性特定疾患 発達性てんかん性脳症 先天性代謝異常症 |
| 出版物タイトル | 岡山医学会雑誌 |
| 発行日 | 2023-12-01 |
| 巻 | 135巻 |
| 号 | 3号 |
| 開始ページ | 116 |
| 終了ページ | 122 |
| ISSN | 0030-1558 |
| 関連URL | isVersionOf https://doi.org/10.4044/joma.135.116 |
| 言語 | 日本語 |
| 著作権者 | Copyright (c) 2023 岡山医学会 |
| 論文のバージョン | publisher |
| DOI | 10.4044/joma.135.116 |
| JaLCDOI | 10.18926/AMO/65980 |
|---|---|
| フルテキストURL | 77_5_561.pdf |
| 著者 | Tsuchiya, Hiroki| Shibata, Takashi| Sasaki, Tatsuya| Inoue, Takushi| Date, Isao| Akiyama, Tomoyuki| Kobayashi, Katsuhiro| |
| 抄録 | West syndrome, an infantile developmental and epileptic encephalopathy with a deleterious impact on long-term development, requires early treatment to minimize developmental abnormality; in such cases, epilepsy surgery should be considered a powerful therapeutic option. We describe a 10-month-old female admitted with West syndrome associated with a hemispheric lesion following abusive head trauma. Her seizures were suppressed by hemispherotomy at 12 months of age, leading to developmental improvement. Surgical treatment of West syndrome following traumatic brain injury has not been reported previously but is worth considering as a treatment option, depending on patient age and brain plasticity. |
| キーワード | abusive head trauma developmental and epileptic encephalopathy epilepsy surgery epileptic spasms hemispherotomy |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2023-10 |
| 巻 | 77巻 |
| 号 | 5号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 561 |
| 終了ページ | 566 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | Copyright Ⓒ 2023 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 37899268 |
| Web of Science KeyUT | 001110832700002 |
| タイトル（別表記） | The 65th Annual Meeting of the Japanese Society of Child Neurology |
|---|---|
| 著者 | 小林 勝弘| |
| 出版物タイトル | 岡山医学会雑誌 |
| 発行日 | 2023-08-01 |
| 巻 | 135巻 |
| 号 | 2号 |
| 開始ページ | 98 |
| 終了ページ | 99 |
| ISSN | 0030-1558 |
| 関連URL | isVersionOf https://doi.org/10.4044/joma.135.98 |
| 言語 | 日本語 |
| 著作権者 | Copyright (c) 2023 岡山医学会 |
| 論文のバージョン | publisher |
| DOI | 10.4044/joma.135.98 |
| フルテキストURL | fulltext20230619-03.pdf fig1_20230619-03.pdf fig2_20230619-03.pdf fig3_20230619-03.pdf suppl20230619-03.pdf |
|---|---|
| 著者 | Akiyama, Mari| Akiyama, Tomoyuki| Saigusa, Daisuke| Hishinuma, Eiji| Matsukawa, Naomi| Shibata, Takashi| Tsuchiya, Hiroki| Mori, Atsushi| Fujii, Yuji| Mogami, Yukiko| Tokorodani, Chiho| Kuwahara, Kozue| Numata-Uematsu, Yurika| Inoue, Kenji| Kobayashi, Katsuhiro| |
| キーワード | Amino acids Biomarkers Intractable epilepsy Ketone bodies Organic acids |
| 備考 | © 2023 British Epilepsy Association. This manuscript version is made available under the CC-BY-NC-ND 4.0 License. http://creativecommons.org/licenses/by-nc-nd/4.0/. This is the accepted manuscript version. The formal published version is available at https://doi.org/10.1016/j.seizure.2023.03.014.| This fulltext file will be available in Apr. 2024.| |
| 発行日 | 2023-04 |
| 出版物タイトル | Seizure |
| 巻 | 107巻 |
| 出版者 | Elsevier BV |
| 開始ページ | 52 |
| 終了ページ | 59 |
| ISSN | 1059-1311 |
| NCID | AA1091615X |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2023 British Epilepsy Association. |
| 論文のバージョン | author |
| PubMed ID | 36958064 |
| DOI | 10.1016/j.seizure.2023.03.014 |
| Web of Science KeyUT | 000994635600001 |
| 関連URL | isVersionOf https://doi.org/10.1016/j.seizure.2023.03.014 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Kobayashi, Katsuhiro| Shibata, Takashi| Tsuchiya, Hiroki| Akiyama, Tomoyuki| |
| キーワード | epilepsy child scalp EEG false ripple high-frequency oscillation (HFO) fast oscillation (FO) |
| 発行日 | 2021-06-15 |
| 出版物タイトル | Frontiers In Human Neuroscience |
| 巻 | 15巻 |
| 出版者 | Frontiers Media SA |
| 開始ページ | 696882 |
| ISSN | 1662-5161 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2021 Kobayashi, Shibata, Tsuchiya and Akiyama. |
| 論文のバージョン | publisher |
| PubMed ID | 34211382 |
| DOI | 10.3389/fnhum.2021.696882 |
| Web of Science KeyUT | 000667490200001 |
| 関連URL | isVersionOf https://doi.org/10.3389/fnhum.2021.696882 |
| フルテキストURL | fulltext.pdf Fig1.tif SupplementaryMaterial1.pdf SupplementaryMaterial2.pdf SupplementaryMaterial3.pdf |
|---|---|
| 著者 | Akiyama, Tomoyuki| Hyodo, Yuki| Hasegawa, Kosei| Oboshi, Taikan| Imai, Katsumi| Ishihara, Naoko| Dowa, Yuri| Koike, Takayoshi| Yamamoto, Toshiyuki| Shibasaki, Jun| Shimbo, Hiroko| Fukuyama, Tetsuhiro| Takano, Kyoko| Shiraku, Hiroshi| Takeshita, Saoko| Okanishi, Tohru| Baba, Shimpei| Kubota, Masaya| Hamano, Shin-ichiro| Kobayashi, Katsuhiro| |
| キーワード | ALDH7A1 PLPBP PLPHP PROSC Pyridoxal 5′-phosphate homeostasis protein deficiency Pyridoxine-dependent epilepsy |
| 備考 | © 2020 Elsevier Inc.. This manuscript version is made available under the CC-BY-NC-ND 4.0 License.http://creativecommons.org/licenses/by-nc-nd/4.0/.This is the accepted manuscript version. The formal published version is available at https://doi.org/10.1016/j.pediatrneurol.2020.08.020| |
| 発行日 | 2020-12 |
| 出版物タイトル | Pediatric Neurology |
| 巻 | 113巻 |
| 出版者 | Elsevier |
| 開始ページ | 33 |
| 終了ページ | 41 |
| ISSN | 0887-8994 |
| NCID | AA10472238 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 論文のバージョン | author |
| PubMed ID | 32980745 |
| DOI | 10.1016/j.pediatrneurol.2020.08.020 |
| Web of Science KeyUT | 000591640100007 |
| 関連URL | isVersionOf https://doi.org/10.1016/j.pediatrneurol.2020.08.020 |
| JaLCDOI | 10.18926/AMO/57955 |
|---|---|
| フルテキストURL | 74_1_65.pdf |
| 著者 | Akiyama, Tomoyuki| Saigusa, Daisuke| Hyodo, Yuki| Umeda, Keiko| Saijo, Reina| Koshiba, Seizo| Kobayashi, Katsuhiro| |
| 抄録 | To characterize metabolic profiles within the central nervous system in epilepsy, we performed gas chromatography-tandem mass spectrometry (GC-MS/MS)-based metabolome analysis of the cerebrospinal fluid (CSF) in pediatric patients with and without epilepsy. The CSF samples obtained from 64 patients were analyzed by GC-MS/MS. Multivariate analyses were performed for two age groups, 0-5 years of age and 6-17 years of age, to elucidate the effects of epilepsy and antiepileptic drugs on the metabolites. In patients aged 0-5 years (22 patients with epilepsy, 13 without epilepsy), epilepsy patients had reduced 2-ketoglutaric acid and elevated pyridoxamine and tyrosine. In patients aged 6-17 years (12 with epilepsy, 17 without epilepsy), epilepsy patients had reduced 1,5-anhydroglucitol. Valproic acid was associated with elevated 2-aminobutyric acid, 2-ketoisocaproic acid, 4-hydroxyproline, acetylglycine, methionine, N-acetylserine, and serine. Reduced energy metabolism and alteration of vitamin B6 metabolism may play a role in epilepsy in young children. The roles of 1,5-anhydroglucitol in epilepsy in older children and in levetiracetam and zonisamide treatment remain to be explained. Valproic acid influenced the levels of amino acids and related metabolites involved in the metabolism of serine, methionine, and leucine. |
| キーワード | antiepileptic drugs gas chromatography-tandem mass spectrometry metabolome analysis metabolomics |
| Amo Type | Original Article |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2020-02 |
| 巻 | 74巻 |
| 号 | 1号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 65 |
| 終了ページ | 72 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2020 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 32099251 |
| Web of Science KeyUT | 000516606200010 |
| NAID | 120006795622 |
| フルテキストURL | PI_62_5_587_592.pdf PI_62_5_Fig1.tif PI_62_5_Fig2.tif |
|---|---|
| 著者 | Miyahara, Hiroyuki| Akiyama, Tomoyuki| Hasegawa, Kosei| Akiyama, Mari| Oka, Makio| Kobayashi, Katsuhiro| Tsukahara, Hirokazu| |
| キーワード | adrenocorticotropic hormone therapy calcium crystal renal tubular epithelial cell urinary sediment |
| 備考 | This is the peer reviewed version of the following article: Miyahara, Hiroyuki et.al. "Laboratory changes during adrenocorticotropic hormone therapy associated with renal calcified lesions" Pediatrics International 62(5) 587-592 (2020), which has been published in final form at https://doi.org/10.1111/ped.14158. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.| |
| 発行日 | 2020-01-19 |
| 出版物タイトル | Pediatrics International |
| 巻 | 62巻 |
| 号 | 5号 |
| 出版者 | Wiley |
| 開始ページ | 587 |
| 終了ページ | 592 |
| ISSN | 1328-8067 |
| NCID | AA11320483 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2020 Japan Pediatric Society |
| 論文のバージョン | author |
| PubMed ID | 31957090 |
| DOI | 10.1111/ped.14158 |
| Web of Science KeyUT | 000536494300014 |
| 関連URL | isVersionOf https://doi.org/10.1111/ped.14158 |
| 著者 | 小林 勝弘| |
|---|---|
| 発行日 | 2016-12-01 |
| 出版物タイトル | 岡山医学会雑誌 |
| 巻 | 128巻 |
| 号 | 3号 |
| 資料タイプ | 学術雑誌論文 |
| JaLCDOI | 10.18926/AMO/49045 |
|---|---|
| フルテキストURL | 66_6_487.pdf |
| 著者 | Agari, Takashi| Mihara, Tadahiro| Baba, Koichi| Kobayashi, Katsuhiro| Usui, Naotaka| Terada, Kiyohito| Nakamura, Fumihiro| Matsuda, Kazumi| Date, Isao| |
| 抄録 | We report on a case of successful surgical treatment of drug-resistant epilepsy associated with a solitary lesion of periventricular nodular heterotopia (PNH). In the reported patient, intracranial ictal electroencephalography disclosed that seizures did not originate from the heterotopic nodules. However, the seizures were completely suppressed by lesionectomy of PNH alone. Epileptogenesis associated with PNH likely involves a very complex network between PNH and the surrounding cortex, and the disruption of this network may be an effective means of curing intractable, PNH-associated epilepsy. |
| キーワード | periventricular nodular heterotopia epilepsy surgery ictal electroencephalography |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2012-12 |
| 巻 | 66巻 |
| 号 | 6号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 487 |
| 終了ページ | 492 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2012 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 23254583 |
| Web of Science KeyUT | 000312966100008 |
| JaLCDOI | 10.18926/AMO/48961 |
|---|---|
| フルテキストURL | 66_5_369.pdf |
| 著者 | Akiyama, Mari| Kobayashi, Katsuhiro| Ohtsuka, Yoko| |
| 抄録 | 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 NaV1.1, 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. |
| キーワード | Dravet syndrome long-term outcome SCN1A PCDH19 |
| Amo Type | Review |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2012-10 |
| 巻 | 66巻 |
| 号 | 5号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 369 |
| 終了ページ | 376 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2012 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 23093055 |
| Web of Science KeyUT | 000310253900001 |
| 著者 | 秋山 麻里| 小林 勝弘| 吉永 治美| 大塚 頌子| |
|---|---|
| 発行日 | 2011-08-01 |
| 出版物タイトル | 岡山医学会雑誌 |
| 巻 | 123巻 |
| 号 | 2号 |
| 資料タイプ | 学術雑誌論文 |
| 著者 | 小林 勝弘| |
|---|---|
| 発行日 | 1987-03-31 |
| 出版物タイトル | |
| 資料タイプ | 学位論文 |