KEGG   DISEASE: てんかんを伴う(または伴わない)発達遅滞
エントリ  
H02989                                                             
名称    
てんかんを伴う(または伴わない)発達遅滞
概要    
Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by milder phenotypes of developmental delay with or without seizures. DEVEP is one part of the phenotypic spectrum caused by SPTAN1 variants.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経系のその他の疾患
   8E4Y  その他の明示された神経系の疾患
    H02989  てんかんを伴う(または伴わない)発達遅滞
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06546  IgSF CAM シグナリング
   H02989  てんかんを伴う(または伴わない)発達遅滞
パスウェイ 
hsa04517  IGSF CAM signaling
ネットワーク
nt06546 IgSF CAM signaling
病因遺伝子 
SPTAN1 [HSA:6709] [KO:K06114]
リンク   
ICD-11: 8E4Y
OMIM: 620540
文献    
  著者
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonniere R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabo A, Sumegi K, Cossee M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H
  タイトル
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
  雑誌
Genet Med 25:76-89 (2023)
DOI:10.1016/j.gim.2022.09.013
文献    
  著者
Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lammer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Moller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R
  タイトル
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
  雑誌
Brain 140:2322-2336 (2017)
DOI:10.1093/brain/awx195
LinkDB    

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