| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 16 (4.0%) |
2510534 |
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. Otani K, Abe J, Futagi Y, Yabuuchi H, Aotani H, Takeuchi T. Brain Dev. 1989;11(5):332-7. |
| 発作 | ||
| ヒト ミオクローヌスてんかん 抗痙攣薬 新生児 点頭てんかん 男 経過観察 脳波記録 鑑別診断 | ||
| 16 (4.0%) |
2121173 |
[Effectiveness of TRH analog in a case of early infantile epileptic encephalopathy]. Ishii M, Tamai K, Sugita K, Tanabe Y. No To Hattatsu. 1990;22(5):507-11. |
| 発作 | ||
| TRH | ||
| Age Factors てんかん ヒト 女 幼児 生理学的モニタリング 脳波記録 静脈内注射 | ||
| 16 (4.0%) |
1641085 |
Early epileptic encephalopathy with suppression bursts and olivary-dentate dysplasia. Robain O, Dulac O. Neuropediatrics. 1992;23(3):162-4. |
| てんかん性脳症 | ||
| オリーブ核 ヒト 大脳半球優位性 女 小脳核 幼児 点頭てんかん 脳波記録 誘発電位 |
合計: 53
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001250 | 発作 | Obligate (100%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0002353 | 脳波異常 | Frequent (79-30%) |
| HP:0002360 | 睡眠障害 | Frequent (79-30%) |
| HP:0002421 | 頸定不全 | Frequent (79-30%) |
| HP:0002521 | ヒプスアリスミア | Frequent (79-30%) |
| HP:0008947 | 乳児筋性筋緊張低下 | Frequent (79-30%) |
| HP:0010851 | 群発‐抑制交代を伴う脳波 | Frequent (79-30%) |
| HP:0000729 | 自閉性行動 | Occasional (29-5%) |
| HP:0000752 | 多動 | Occasional (29-5%) |
| HP:0001257 | 痙性 | Occasional (29-5%) |
| HP:0001266 | 舞踏病アテトーゼ | Occasional (29-5%) |
| HP:0001272 | 小脳萎縮 | Occasional (29-5%) |
| HP:0001302 | 脳回肥厚 | Occasional (29-5%) |
| HP:0001336 | ミオクローヌス | Occasional (29-5%) |
| HP:0001337 | 振戦 | Occasional (29-5%) |
| HP:0002069 | 全身性間代性強直性発作 | Occasional (29-5%) |
| HP:0002079 | 脳梁低形成 | Occasional (29-5%) |
| HP:0002121 | 欠神発作 | Occasional (29-5%) |
| HP:0002131 | 運動失調エピソード | Occasional (29-5%) |
| HP:0002373 | 熱性けいれん | Occasional (29-5%) |
| HP:0002376 | 発達退行 | Occasional (29-5%) |
| HP:0002506 | びまん性大脳萎縮 | Occasional (29-5%) |
| HP:0007204 | びまん性白質異常 | Occasional (29-5%) |
| HP:0010818 | 全身性間代性発作 | Occasional (29-5%) |
| HP:0010819 | 脱力発作 | Occasional (29-5%) |
| HP:0010850 | 棘波複合を伴う脳波 | Occasional (29-5%) |
| HP:0011169 | 全身性間代性発作 | Occasional (29-5%) |
| HP:0011190 | 片側性および両側性多焦点性てんかん型放電 | Occasional (29-5%) |
| HP:0012448 | 髄鞘形成遅延 | Occasional (29-5%) |
| HP:0012469 | 乳児スパスム | Occasional (29-5%) |
| HP:0040168 | Focal seizures, afebril | Occasional (29-5%) |
| HP:0100660 | ジスキネジア | Occasional (29-5%) |
| HP:0100716 | 自傷行動 | Occasional (29-5%) |
| HP:0000054 | 小陰茎 | Very rare (4-1%) |
| HP:0000070 | 尿管瘤 | Very rare (4-1%) |
| HP:0000110 | 腎異形成 | Very rare (4-1%) |
| HP:0000175 | 口蓋裂 | Very rare (4-1%) |
| HP:0000252 | 小頭 | Very rare (4-1%) |
| HP:0000340 | 額傾斜 | Very rare (4-1%) |
| HP:0000463 | 上向きの鼻孔 | Very rare (4-1%) |
| HP:0000486 | 斜視 | Very rare (4-1%) |
| HP:0000826 | 思春期早発 | Very rare (4-1%) |
| HP:0001332 | ジストニア | Very rare (4-1%) |
| HP:0001500 | 幅広い指 | Very rare (4-1%) |
| HP:0001508 | 成長障害 (成長不全) | Very rare (4-1%) |
| HP:0001537 | 臍ヘルニア | Very rare (4-1%) |
| HP:0001629 | 心室中隔欠損 | Very rare (4-1%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very rare (4-1%) |
| HP:0009381 | 短い指 | Very rare (4-1%) |
| HP:0010174 | 幅広い趾骨 | Very rare (4-1%) |
| HP:0012554 | 母指爪欠損 | Very rare (4-1%) |
合計: 19
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001250 | 発作 | 24 |
| HP:0200134 | てんかん性脳症 | 11 |
| HP:0001298 | 脳症 | 6 |
| HP:0001249 | 知的障害 | 5 |
| HP:0001263 | 全般性発達遅滞 | 3 |
| HP:0001336 | ミオクローヌス | 2 |
| HP:0025356 | Psychomotor retardation | 2 |
| HP:0032046 | Focal cortical dysplasia | 2 |
| HP:0000062 | 性別不明の外性器 | 1 |
| HP:0001251 | 運動失調 | 1 |
| HP:0001300 | パーキンソン症候群 | 1 |
| HP:0001321 | 小脳低形成 | 1 |
| HP:0001662 | 徐脈 | 1 |
| HP:0002133 | てんかん重積 | 1 |
| HP:0002180 | 神経変性 | 1 |
| HP:0004756 | 心室性 頻拍 | 1 |
| HP:0012032 | 脂肪腫 | 1 |
| HP:0012447 | 異常な髄鞘形成 | 1 |
| HP:0031491 | Continuous spike and waves during slow sleep | 1 |
合計: 14
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|---|---|
| NEUROD2 | neuronal differentiation 2 | 4761 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | 6326 |
| CDKL5 | cyclin dependent kinase like 5 | 6792 |
| STXBP1 | syntaxin binding protein 1 | 6812 |
| ARX | aristaless related homeobox | 170302 |
| CASK | calcium/calmodulin dependent serine protein kinase | 8573 |
| PNKP | polynucleotide kinase 3'-phosphatase | 11284 |
| GNAO1 | G protein subunit alpha o1 | 2775 |
| PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | 9091 |
| SIK1 | salt inducible kinase 1 | 150094 |
| SLC25A22 | solute carrier family 25 member 22 | 79751 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | 3736 |
| TRIM8 | tripartite motif containing 8 | 81603 |
| PIGP | phosphatidylinositol glycan anchor biosynthesis class P | 51227 |