HCN1 Gain-Of-Function Mutations – A New Cause of Epileptic Encephalopathy

Lignende værker

• Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
  af: Siekierska, Aleksandra, et al.
  Udgivet: (2016)
• Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies
  af: Misra, Sunita N., et al.
  Udgivet: (2018)
• Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
  af: Lehman, Anna, et al.
  Udgivet: (2017)
• De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
  af: Syrbe, Steffen, et al.
  Udgivet: (2015)
• Missense Is No Nonsense for Epileptic Encephalopathies
  af: Pirone, Antonella, et al.
  Udgivet: (2017)