| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2009-03-11 |
| タイトル |
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|
タイトル |
Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome : A successful use of zonisamide for controlling the seizures |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| 著者 |
高橋, 悟
Ohinata, J
Suzuki, N
Amamiya, S
Kajihama, A
Sugai, R
Araki, A
Fujieda, K
Tanaka, H
|
| 著者 ローマ字 |
|
|
|
Takahashi, Satoru |
| 書誌情報 |
Epilepsy Research
巻 80,
号 1,
p. 18-22,
発行日 2008-07-01
|
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
0920-1211 |
| DOI |
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関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
10.1016/j.eplepsyres.2008.03.010 |
| リンクURL |
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内容記述タイプ |
Other |
|
内容記述 |
http://dx.doi.org/10.1016/j.eplepsyres.2008.03.010 | http://dx.doi.org/10.1016/j.eplepsyres.2008.03.010 |
| 抄録 |
|
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内容記述タイプ |
Abstract |
|
内容記述 |
Glucose transporter 1 (GLUT1) deficiency syndrome is caused by a deficit in glucose transport to the brain during the pre- and postnatal periods. Here we report two cases of GLUT1 deficiency syndrome diagnosed on the basis of clinical features, reduced GLUT1 activities, and mutations in the GLUT1 gene. Patient 1 had a novel heterozygous 1-bp insertion in exon 7 that resulted in a shift of the reading frame and the introduction of a premature stop codon at amino acid position 380. His clinical phenotype appeared to be more severe than that of Patient 2 who had a missense mutation in exon 8 resulting in an arginine-to-tryptophan substitution at amino acid position 333. Patient 1 had no meaningful words and could not walk unassisted, while Patient 2 could speak and walk unassisted. Both the patients developed seizures of various types that have been successfully treated with zonisamide. Although several antiepileptic drugs, including barbiturates, diazepam, chloralhydrate, and valproic acid, have been shown to inhibit GLUT1 function, the present study demonstrated no inhibitory effect of zonisamide on GLUT-1-mediated glucose transport. Our data suggested that zonisamide might be preferable if add-on anticonvulsant therapy is required to control the seizures in patients with this disorder. |
| 注記 |
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内容記述タイプ |
Other |
|
注記 |
author |
| 資源タイプ |
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内容記述タイプ |
Other |
|
資源タイプ |
text |
| 著者版フラグ |
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出版タイプ |
AM |
| フォーマット |
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内容記述タイプ |
Other |
|
内容記述 |
application/pdf |
| ID(XooNIps) |
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18455367 |
| 閲覧数(XooNIps) |
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| ダウンロード数(XooNIps) |
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|
1058 |
1598.pdf (232.2 kB)
