| JaLCDOI | 10.18926/AMO/48961 |
|---|---|
| FullText URL | 66_5_369.pdf |
| Author | Akiyama, Mari| Kobayashi, Katsuhiro| Ohtsuka, Yoko| |
| Abstract | 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. |
| Keywords | Dravet syndrome long-term outcome SCN1A PCDH19 |
| Amo Type | Review |
| Publication Title | Acta Medica Okayama |
| Published Date | 2012-10 |
| Volume | volume66 |
| Issue | issue5 |
| Publisher | Okayama University Medical School |
| Start Page | 369 |
| End Page | 376 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| Content Type | Journal Article |
| language | English |
| Copyright Holders | CopyrightⒸ 2012 by Okayama University Medical School |
| File Version | publisher |
| Refereed | True |
| PubMed ID | 23093055 |
| Web of Science KeyUT | 000310253900001 |
| JaLCDOI | 10.18926/AMO/49045 |
|---|---|
| FullText URL | 66_6_487.pdf |
| Author | Agari, Takashi| Mihara, Tadahiro| Baba, Koichi| Kobayashi, Katsuhiro| Usui, Naotaka| Terada, Kiyohito| Nakamura, Fumihiro| Matsuda, Kazumi| Date, Isao| |
| Abstract | 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. |
| Keywords | periventricular nodular heterotopia epilepsy surgery ictal electroencephalography |
| Amo Type | Case Report |
| Publication Title | Acta Medica Okayama |
| Published Date | 2012-12 |
| Volume | volume66 |
| Issue | issue6 |
| Publisher | Okayama University Medical School |
| Start Page | 487 |
| End Page | 492 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| Content Type | Journal Article |
| language | English |
| Copyright Holders | CopyrightⒸ 2012 by Okayama University Medical School |
| File Version | publisher |
| Refereed | True |
| PubMed ID | 23254583 |
| Web of Science KeyUT | 000312966100008 |
| JaLCDOI | 10.18926/AMO/57955 |
|---|---|
| FullText URL | 74_1_65.pdf |
| Author | Akiyama, Tomoyuki| Saigusa, Daisuke| Hyodo, Yuki| Umeda, Keiko| Saijo, Reina| Koshiba, Seizo| Kobayashi, Katsuhiro| |
| Abstract | 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. |
| Keywords | antiepileptic drugs gas chromatography-tandem mass spectrometry metabolome analysis metabolomics |
| Amo Type | Original Article |
| Publication Title | Acta Medica Okayama |
| Published Date | 2020-02 |
| Volume | volume74 |
| Issue | issue1 |
| Publisher | Okayama University Medical School |
| Start Page | 65 |
| End Page | 72 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| Content Type | Journal Article |
| language | English |
| Copyright Holders | CopyrightⒸ 2020 by Okayama University Medical School |
| File Version | publisher |
| Refereed | True |
| PubMed ID | 32099251 |
| Web of Science KeyUT | 000516606200010 |
| NAID | 120006795622 |
| Author | 小林 勝弘| |
|---|---|
| Published Date | 1987-03-31 |
| Publication Title | |
| Content Type | Thesis or Dissertation |
| Author | Akiyama, Mari| Kobayashi, Katsuhiro| Yoshinaga, Harumi| Ohtsuka, Yoko| |
|---|---|
| Published Date | 2011-08-01 |
| Publication Title | 岡山医学会雑誌 |
| Volume | volume123 |
| Issue | issue2 |
| Content Type | Journal Article |
| Author | Kobayashi, Katsuhiro| |
|---|---|
| Published Date | 2016-12-01 |
| Publication Title | Journal of Okayama Medical Association |
| Volume | volume128 |
| Issue | issue3 |
| Content Type | Journal Article |
| FullText URL | PI_62_5_587_592.pdf PI_62_5_Fig1.tif PI_62_5_Fig2.tif |
|---|---|
| Author | Miyahara, Hiroyuki| Akiyama, Tomoyuki| Hasegawa, Kosei| Akiyama, Mari| Oka, Makio| Kobayashi, Katsuhiro| Tsukahara, Hirokazu| |
| Keywords | adrenocorticotropic hormone therapy calcium crystal renal tubular epithelial cell urinary sediment |
| Note | 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.| |
| Published Date | 2020-01-19 |
| Publication Title | Pediatrics International |
| Volume | volume62 |
| Issue | issue5 |
| Publisher | Wiley |
| Start Page | 587 |
| End Page | 592 |
| ISSN | 1328-8067 |
| NCID | AA11320483 |
| Content Type | Journal Article |
| language | English |
| OAI-PMH Set | 岡山大学 |
| Copyright Holders | © 2020 Japan Pediatric Society |
| File Version | author |
| PubMed ID | 31957090 |
| DOI | 10.1111/ped.14158 |
| Web of Science KeyUT | 000536494300014 |
| Related Url | isVersionOf https://doi.org/10.1111/ped.14158 |
| FullText URL | fulltext.pdf Fig1.tif SupplementaryMaterial1.pdf SupplementaryMaterial2.pdf SupplementaryMaterial3.pdf |
|---|---|
| Author | 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| |
| Keywords | ALDH7A1 PLPBP PLPHP PROSC Pyridoxal 5′-phosphate homeostasis protein deficiency Pyridoxine-dependent epilepsy |
| Note | © 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| |
| Published Date | 2020-12 |
| Publication Title | Pediatric Neurology |
| Volume | volume113 |
| Publisher | Elsevier |
| Start Page | 33 |
| End Page | 41 |
| ISSN | 0887-8994 |
| NCID | AA10472238 |
| Content Type | Journal Article |
| language | English |
| OAI-PMH Set | 岡山大学 |
| File Version | author |
| PubMed ID | 32980745 |
| DOI | 10.1016/j.pediatrneurol.2020.08.020 |
| Web of Science KeyUT | 000591640100007 |
| Related Url | isVersionOf https://doi.org/10.1016/j.pediatrneurol.2020.08.020 |
| FullText URL | fulltext.pdf |
|---|---|
| Author | Kobayashi, Katsuhiro| Shibata, Takashi| Tsuchiya, Hiroki| Akiyama, Tomoyuki| |
| Keywords | epilepsy child scalp EEG false ripple high-frequency oscillation (HFO) fast oscillation (FO) |
| Published Date | 2021-06-15 |
| Publication Title | Frontiers In Human Neuroscience |
| Volume | volume15 |
| Publisher | Frontiers Media SA |
| Start Page | 696882 |
| ISSN | 1662-5161 |
| Content Type | Journal Article |
| language | English |
| OAI-PMH Set | 岡山大学 |
| Copyright Holders | © 2021 Kobayashi, Shibata, Tsuchiya and Akiyama. |
| File Version | publisher |
| PubMed ID | 34211382 |
| DOI | 10.3389/fnhum.2021.696882 |
| Web of Science KeyUT | 000667490200001 |
| Related Url | isVersionOf https://doi.org/10.3389/fnhum.2021.696882 |
| Author | 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| |
|---|---|
| Keywords | Amino acids Biomarkers Intractable epilepsy Ketone bodies Organic acids |
| Note | © 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.| |
| Published Date | 2023-04 |
| Publication Title | Seizure |
| Volume | volume107 |
| Publisher | Elsevier BV |
| Start Page | 52 |
| End Page | 59 |
| ISSN | 1059-1311 |
| NCID | AA1091615X |
| Content Type | Journal Article |
| language | English |
| OAI-PMH Set | 岡山大学 |
| Copyright Holders | © 2023 British Epilepsy Association. |
| File Version | author |
| PubMed ID | 36958064 |
| DOI | 10.1016/j.seizure.2023.03.014 |
| Web of Science KeyUT | 000994635600001 |
| Related Url | isVersionOf https://doi.org/10.1016/j.seizure.2023.03.014 |
| Title Alternative | The 65th Annual Meeting of the Japanese Society of Child Neurology |
|---|---|
| Author | Kobayashi, Katsuhiro| |
| Publication Title | Journal of Okayama Medical Association |
| Published Date | 2023-08-01 |
| Volume | volume135 |
| Issue | issue2 |
| Start Page | 98 |
| End Page | 99 |
| ISSN | 0030-1558 |
| Related Url | isVersionOf https://doi.org/10.4044/joma.135.98 |
| language | Japanese |
| Copyright Holders | Copyright (c) 2023 岡山医学会 |
| File Version | publisher |
| DOI | 10.4044/joma.135.98 |
| JaLCDOI | 10.18926/AMO/65980 |
|---|---|
| FullText URL | 77_5_561.pdf |
| Author | Tsuchiya, Hiroki| Shibata, Takashi| Sasaki, Tatsuya| Inoue, Takushi| Date, Isao| Akiyama, Tomoyuki| Kobayashi, Katsuhiro| |
| Abstract | 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. |
| Keywords | abusive head trauma developmental and epileptic encephalopathy epilepsy surgery epileptic spasms hemispherotomy |
| Amo Type | Case Report |
| Publication Title | Acta Medica Okayama |
| Published Date | 2023-10 |
| Volume | volume77 |
| Issue | issue5 |
| Publisher | Okayama University Medical School |
| Start Page | 561 |
| End Page | 566 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| Content Type | Journal Article |
| language | English |
| Copyright Holders | Copyright Ⓒ 2023 by Okayama University Medical School |
| File Version | publisher |
| Refereed | True |
| PubMed ID | 37899268 |
| Web of Science KeyUT | 001110832700002 |
| Title Alternative | Child neurology and childhood-onset intractable diseases |
|---|---|
| Author | Kobayashi, Katsuhiro| |
| Keywords | 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 |
| Publication Title | Journal of Okayama Medical Association |
| Published Date | 2023-12-01 |
| Volume | volume135 |
| Issue | issue3 |
| Start Page | 116 |
| End Page | 122 |
| ISSN | 0030-1558 |
| Related Url | isVersionOf https://doi.org/10.4044/joma.135.116 |
| language | Japanese |
| Copyright Holders | Copyright (c) 2023 岡山医学会 |
| File Version | publisher |
| DOI | 10.4044/joma.135.116 |
