A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. (December 2017)

• Record Type: Journal Article
• Authors: Dhamija, Radhika; Goodkin, Howard P.; Bailey, Russell; Chambers, Chelsea; Brenton, J. Nicholas
• Is Part Of: Journal of child neurology. Volume 32:Number 14(2017:Dec.)
• Page Start: 1123
• Page End: 1124
• Publication Date: 2017-12
• Subjects: chorea -- next generation sequencing -- pediatrics -- genetics -- mutation; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073817736702
• Languages: English
• ISSNs: 0883-0738

Abstract

The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2 . There is an expanding phenotypic spectrum of heterozygous alterations in KCNQ2 ; however, this report provides the first description of a pathogenic KCNQ2 variant fever-induced hyperkinetic movement disorder in childhood. We also review the literature of cases previously published with the same pathogenic variant.