CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.

Autor: Hayashida T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address: takuya361985@yahoo.co.jp., Saito Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Ishii A; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan., Yamada H; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Itakura A; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Minato T; Department of Pediatrics, Toyooka Public Hospital, Toyooka, Japan., Fukuyama T; Department of Neurology, Nagano Children's Hospital, Azumino, Japan., Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Hirose S; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Jazyk: angličtina
Zdroj: Brain & development [Brain Dev] 2018 Feb; Vol. 40 (2), pp. 130-133. Date of Electronic Publication: 2017 Sep 18.
DOI: 10.1016/j.braindev.2017.08.006
Abstrakt: We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age. A de novo heterozygous missense mutation in the CACNA1A gene was confirmed. This patient was the most severe phenotype of CACNA1A-related early-onset encephalopathy among previous reports.
(Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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