Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Lignende værker

• Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
  af: Claudia Stendel, et al.
  Udgivet: (2020-05-01)
• New insights into the pathogenesis and therapeutics of episodic ataxia type 1
  af: D’Adamo, Maria Cristina, et al.
  Udgivet: (2015)
• Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
  af: Karalok, Zeynep S., et al.
  Udgivet: (2018)
• ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
  af: Sasaki, Masayuki, et al.
  Udgivet: (2020)
• Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
  af: D'Adamo, M C, et al.
  Udgivet: (1998)