アブストラクト
Japanese
| Title | 電位依存性ナトリウムイオンチャネルとてんかん |
|---|---|
| Subtitle | 総説 |
| Authors | 石井敦士 |
| Authors (kana) | |
| Organization | 福岡大学医学部小児科 |
| Journal | 脳と発達 |
| Volume | 53 |
| Number | 1 |
| Page | 5-9 |
| Year/Month | 2021 / 1 |
| Article | 報告 |
| Publisher | 日本小児神経学会 |
| Abstract | 「要旨」てんかんは何らかの要因により, 脳神経細胞の興奮と抑制の均衡が破綻し, 脳神経細胞の過剰な興奮による. 電位依存性ナトリウムイオン(Na+)チャネルは神経細胞での伝導調整を担い, てんかんの発症に大きく関与する. てんかんでの異常が報告されている電位依存性Na+チャネルをコードする遺伝子は, SCN1A, SCN2A, SCN3A, SCN8Aの4つの遺伝子である. SCN1Aは素因性てんかん熱性けいれんプラス, SCN2Aは良性(家族性)新生児乳児てんかんと比較的軽症なてんかんにおいて病的バリアントが見られる. 一方で, いずれも重症な発達性てんかん性脳症においても病的バリアントを認める. 本項では, これら4つの遺伝子の異常と, それによる表現型について最新の知見を踏まえて解説する. |
| Practice | 臨床医学：内科系 |
| Keywords | 電位依存性ナトリウムイオンチャネル, てんかん, Dravet症候群, 発達性てんかん性脳症, 片麻痺性片頭痛 |
English
| Title | Voltage gated sodium ion channel and epilepsy |
|---|---|
| Subtitle | |
| Authors | Atsushi Ishii |
| Authors (kana) | |
| Organization | Department of Pediatrics, Fukuoka University |
| Journal | NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) |
| Volume | 53 |
| Number | 1 |
| Page | 5-9 |
| Year/Month | 2021 / 1 |
| Article | Report |
| Publisher | The Japanese Society of Child Neurology |
| Abstract | Epilepsy is caused by the excessive excitation of neurons due to alterations in the excitation and inhibition balance caused by various factors. Voltage-gated sodium ion (Na+) channels are responsible for regulating conduction in neurons and play a major role in the development of epilepsy. The genes that code for voltage-gated Na+ channels, abnormalities of which have been reported in epilepsy patients, include SCN1A, SCN2A, SCN3A and SCN8A. Pathological variants of SCN1A are seen in genetic forms of epilepsy with febrile seizures plus, and variants of SCN2A are seen in benign (familial) neonatal-infantile epilepsy and relatively mild epilepsy. Meanwhile, pathological variants or all of these genes are observed in severe developmental epileptic encephalopathy. Here, abnormalities of these four genes and their phenotypes are described based on the latest findings. |
| Practice | Clinical internal medicine |
| Keywords |
- 全文ダウンロード： 従量制、基本料金制の方共に770円(税込) です。
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残りの17件を表示する
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