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
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
発行日 2012-10
出版物タイトル Acta Medica Okayama
66巻
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 English
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
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
発行日 2012-12
出版物タイトル Acta Medica Okayama
66巻
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 English
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/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
発行日 2020-02
出版物タイトル Acta Medica Okayama
74巻
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 English
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
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
123巻
2号
資料タイプ 学術雑誌論文
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
128巻
3号
資料タイプ 学術雑誌論文