A case of recurrent encephalopathy with SCN2A missense mutation

Abstract Voltage-gated sodium channels regulate neuronal excitability, as well as survival and the patterning of neuronal connectivity during development. Mutations in SCN2A , which encodes the Na+ channel Nav 1.2, cause epilepsy syndromes and predispose children to acute encephalopathy. Here, we re...

Full description

Saved in:
Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2015-06, Vol.37 (6), p.631-634
Main Authors: Fukasawa, Tatsuya, Kubota, Tetsuo, Negoro, Tamiko, Saitoh, Makiko, Mizuguchi, Masashi, Ihara, Yukiko, Ishii, Atsushi, Hirose, Shinichi
Format: Article
Language:English
Subjects:
Brain - pathology
Brain - physiopathology
Brain Diseases - diagnosis
Brain Diseases - genetics
Brain Diseases - pathology
Brain Diseases - physiopathology
Diffusion Magnetic Resonance Imaging
Electroencephalography
Encephalopathy
Humans
Infant
Male
Mutation
Mutation, Missense
NAV1.2 Voltage-Gated Sodium Channel - genetics
Neurology
Recurrence
SCN2A
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Voltage-gated sodium channels regulate neuronal excitability, as well as survival and the patterning of neuronal connectivity during development. Mutations in SCN2A , which encodes the Na+ channel Nav 1.2, cause epilepsy syndromes and predispose children to acute encephalopathy. Here, we report the case of a young male with recurrent acute encephalopathy who carried a novel missense mutation in the SCN2A gene. He was born by normal delivery and developed repetitive apneic episodes at 2 days of age. Diffusion-weighted imaging revealed high-intensity areas in diffuse subcortical white matter, bilateral thalami, and basal nuclei. His symptoms improved gradually without any specific treatment, but he exhibited a motor milestone delay after the episode. At the age of 10 months, he developed acute cerebellopathy associated with a respiratory syncytial viral infection. He received high-dose intravenous gammaglobulin and methylprednisolone pulse therapy and seemed to have no obvious sequelae after the episode. He then developed severe diffuse encephalopathy associated with gastroenteritis at the age of 14 months. He received high-dose intravenous gammaglobulin and methylprednisolone pulse therapy but was left with severe neurological sequelae. PCR-based analysis revealed a novel de novo missense mutation, c.4979T>G (p.Leu1660Trp), in the SCN2A gene. This case suggests that SCN2A mutations might predispose children to repetitive encephalopathy with variable clinical and imaging findings.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2014.10.001