KEGG   DISEASE: 良性家族性新生児けいれん
エントリ  
H00806                                                             
名称    
良性家族性新生児けいれん
概要    
Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. BFNS are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels.
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
  てんかんまたは発作
   8A61  主にてんかんとして発現する遺伝的または推定される遺伝的症候群
    H00806  良性家族性新生児けいれん
パスウェイ 
hsa04725  Cholinergic synapse
病因遺伝子 
(BFNS1) KCNQ2 [HSA:3785] [KO:K04927]
(BFNS2) KCNQ3 [HSA:3786] [KO:K04928]
リンク   
ICD-11: 8A61.10
MeSH: D020936
OMIM: 121200 121201
文献    
  著者
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
  タイトル
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
  雑誌
Epilepsia 51:676-85 (2010)
DOI:10.1111/j.1528-1167.2010.02522.x
文献    
  著者
Mulley JC, Heron SE, Dibbens LM
  タイトル
Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.
  雑誌
Epilepsia 52:649-50 (2011)
DOI:10.1111/j.1528-1167.2010.02953.x
文献    
  著者
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H
  タイトル
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
  雑誌
Brain 133:1403-14 (2010)
DOI:10.1093/brain/awq057
文献    
  著者
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK
  タイトル
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
  雑誌
Proc Natl Acad Sci U S A 98:12272-7 (2001)
DOI:10.1073/pnas.211431298
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