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A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome).
Valentine, Vinod; Sogawa, Yoshimi; Rajan, Deepa; Ortiz, Damara.
Affiliation
  • Valentine V; Department of Child Neurology, Children's Hospital of Pittsburgh of UPMC, United States. Electronic address: vinod.valentine@chp.edu.
  • Sogawa Y; Department of Child Neurology, Children's Hospital of Pittsburgh of UPMC, United States.
  • Rajan D; Department of Child Neurology, Children's Hospital of Pittsburgh of UPMC, United States.
  • Ortiz D; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, United States.
Seizure ; 60: 120-122, 2018 Aug.
Article in En | MEDLINE | ID: mdl-29957440
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E / Mutation / Myoclonus Limits: Child, preschool / Female / Humans Language: En Journal: Seizure Journal subject: NEUROLOGIA Year: 2018 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E / Mutation / Myoclonus Limits: Child, preschool / Female / Humans Language: En Journal: Seizure Journal subject: NEUROLOGIA Year: 2018 Document type: Article