Paroxysmal Choreoathetosis in a Child with SCN2A Mutation and Neonatal Seizures

Nancy George, Deepa Sirsi, Drew M Thodeson and Jason Y Park
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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

Open Access Journal of Neurology & Neurosurgery, 2017, vol. 4, issue 4, 52-54

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.

Keywords: Open Access Journal of Neurology; Journal of Neurology & Neurosurgery; Open Access Journal; juniper publishers; neurology open access journals; journal of neurology; neurology indexed journals; neurology scholarly journals; journal of neurology; neurology journals impact factor; juniper publishers reivew (search for similar items in EconPapers)
Date: 2017
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Persistent link: https://EconPapers.repec.org/RePEc:adp:joajnn:v:4:y:2017:i:4:p:52-54

DOI: 10.19080/OAJNN.2017.04.555641

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