A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
J Child Neurol
; 32(14): 1123-1124, 2017 Dec.
Article
in En
| MEDLINE
| ID: mdl-29129156
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Family Health
/
KCNQ2 Potassium Channel
/
Fever
/
Movement Disorders
/
Mutation
Type of study:
Risk_factors_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
J Child Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2017
Type:
Article
Affiliation country:
United States