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
Published Date 2020-02
Publication Title Acta Medica Okayama
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 英語
Copyright Holders CopyrightⒸ 2020 by Okayama University Medical School
File Version publisher
Refereed True
PubMed ID 32099251
Author Kobayashi, Katsuhiro|
Published Date 2016-12-01
Publication Title Journal of Okayama Medical Association
Volume volume128
Issue issue3
Content Type Journal Article
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
Published Date 2012-12
Publication Title Acta Medica Okayama
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 英語
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/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
Published Date 2012-10
Publication Title Acta Medica Okayama
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 英語
Copyright Holders CopyrightⒸ 2012 by Okayama University Medical School
File Version publisher
Refereed True
PubMed ID 23093055
Web of Science KeyUT 000310253900001
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 小林 勝弘|
Published Date 1987-03-31
Publication Title
Content Type Thesis or Dissertation