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Paroxysmal Choreoathetosis in a Child with SCN2A Mutation and Neonatal Seizures

Author

Listed:
  • Nancy George
  • Deepa Sirsi
  • Drew M Thodeson

    (Department of Pediatrics and Neurology & Neurotherapeutics, UT Southwestern Medical Center, USA)

  • Jason Y Park

    (Department of Pathology and the Eugene McDermott Center for Human Growth and Development, UT Southwestern Medical Center, USA)

Abstract

SCN2A mutations are associated with phenotypes ranging from benign neonatal and infantile seizures to severe epileptic encephalopathy. Movement disorders have been identified with SCN2A phenotypes but mostly in association with epileptic encephalopathies. Recent case series and case reports have described ataxia and dystonia in children with benign neonatal seizures. We describe choreoathetosis in a child with normal development, de novo SCN2A mutation, and a history of neonatal and infantile seizures. Her choreoathetosis responded dramatically to low dose oxcarbazepine.

Suggested Citation

  • Nancy George & Deepa Sirsi & Drew M Thodeson & Jason Y Park, 2017. "Paroxysmal Choreoathetosis in a Child with SCN2A Mutation and Neonatal Seizures," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 4(4), pages 52-54, June.
    • Handle: RePEc:adp:joajnn:v:4:y:2017:i:4:p:52-54
    DOI: 10.19080/OAJNN.2017.04.555641
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