Brenton, J Nicholas
Mayo Clinic
From the Division of Epilepsy and Clinical Neurophysiology (A.V., M.G.-L., M.A.-G., J.C., T.L.), Department of Neurology, Boston Children's Hospital, Harvard Medical School, MA; Division of Child and Adolescent Neurology (A.V., E.T.P.), Department of Neuro
Citations 11
A Case of KCNQ2 -Associated Movement Disorder Triggered by Fever
Dhamija, Radhika , Goodkin, Howard P. , Bailey, Russell C., Chambers, Chelsea , Brenton, J. Nicholas , Brenton, J Nicholas , Dhamija, Radhika
Journal of Child Neurology | November 12, 2017 | Volume: 32 | Issue: 14 | Pages: 1123-1124
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.