KEGG   DISEASE: 神経細胞移動異常症
エントリ  
H01835                                                             
名称    
神経細胞移動異常症
  下位グループ
脳回欠損症 [DS:H00268]
脳室周囲結節性異所性灰白質 [DS:H00270]
異所性灰白質 [DS:H02785]
多小脳回 [DS:H00271]
裂脳症 [DS:H01160]
孔脳症 [DS:H00839]
脳梁欠損症 [DS:H00263]
概要    
Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by malpositioning and faulty differentiation of cortical grey matter. Neuronal positioning is an integral part of the coordinated steps comprising neural circuit formation in embryonic and neonatal development. Correct positioning of neurons by normal migration plays a critical role in establishing cognitive functions and emotion. The causes of brain malformations associated with positioning and migration defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   神経系の構造的発達異常
    LA05  脳の構造的発達異常
     H01835  神経細胞移動異常症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06501  HH シグナリング
   H01835  神経細胞移動異常症
指定難病 [jp08407.html]
 H01835
ネットワーク
nt06501 HH signaling
リンク   
ICD-11: LA05.5
ICD-10: Q04
MeSH: D054081
文献    
  著者
Copp AJ, Harding BN
  タイトル
Neuronal migration disorders in humans and in mouse models--an overview.
  雑誌
Epilepsy Res 36:133-41 (1999)
DOI:10.1016/S0920-1211(99)00047-9
文献    
  著者
Moffat JJ, Ka M, Jung EM, Kim WY
  タイトル
Genes and brain malformations associated with abnormal neuron positioning.
  雑誌
Mol Brain 8:72 (2015)
DOI:10.1186/s13041-015-0164-4
文献    
  著者
Moon HM, Wynshaw-Boris A
  タイトル
Cytoskeleton in action: lissencephaly, a neuronal migration disorder.
  雑誌
Wiley Interdiscip Rev Dev Biol 2:229-45 (2013)
DOI:10.1002/wdev.67
LinkDB    

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