Abstract
We describe a girl with Down syndrome who experienced focal seizures and epileptic
spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal
period. She had focal seizures at five months of age, which were controlled with phenobarbital.
However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia.
Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared.
Her younger brother also had focal seizures at five months of age. His development
and interictal electroencephalogram were normal. The patient’s father had had infantile
epilepsy and paroxysmal kinesigenic dyskinesia. We performed a mutation analysis of
the PRRT2 gene and found a c.841T > C mutation in the present patient, her father, and in her younger brother. We hypothesized
that the focal seizures in our patient were caused by the PRRT2 mutation, whereas the epileptic spasms were attributable to trisomy 21.
Keywords
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Article info
Publication history
Published online: February 08, 2016
Accepted:
December 25,
2015
Received in revised form:
December 25,
2015
Received:
September 28,
2015
Identification
Copyright
© 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
