STXBP1

Francesca Furia1,2, Charlene Son Rigby3, Ingrid E Scheffer4,5

  • 1Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.

概括

在STXBP1疾病中死亡率为3.2%,性突然意外死亡 (SUDEP) 和感染是主要原因. 早期诊断和预防策略对于受影响的个人和家庭至关重要.