De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Lignende værker

• De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
  af: Helbig, Katherine L., et al.
  Udgivet: (2018)
• De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
  af: Helbig, Katherine L., et al.
  Udgivet: (2019)
• De Novo KCNB1 Mutations in Epileptic Encephalopathy
  af: Torkamani, Ali, et al.
  Udgivet: (2014)
• De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
  af: Syrbe, Steffen, et al.
  Udgivet: (2015)
• De novo NSF mutations cause early infantile epileptic encephalopathy
  af: Suzuki, Hisato, et al.
  Udgivet: (2019)