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Updated: Feb 14, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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F-boxドメインの de novo FBXW7ミスセンスの変異と関連した孤立した欠席性

Anees Muhammad1, Mohammad Sadegh Shams Nosrati2,3, Alireza Dostmohammadi4

  • 1Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.

Epilepsia open
|February 13, 2026
PubMed
まとめ

欠席性症の子供に新しいFBXW7遺伝子変異体が特定され,FBXW7に関連する神経発達障害のスペクトルを拡大しました. このF-boxドメイン変異は,WD40ドメイン変異と比較して,より穏やかな現象型を示唆しています.

キーワード:
FBXW7FBXW7FBXW7 FBXW7FBXW7 FBXW7FBXF-box (F-ボックス) とはデノヴォー・デノヴォー (de novo) とは早期発症の欠席性 epilepsy が発症している.ミッセンセスの変種であるミッセンセスの変種.神経発達障害である.

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