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SCN8A Encephalopathy: Case Report and Literature Review

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the m...

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Autores principales: Fan, Hueng-Chuen, Lee, Hsiu-Fen, Chi, Ching-Shiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167728/
https://www.ncbi.nlm.nih.gov/pubmed/33915942
http://dx.doi.org/10.3390/neurolint13020014
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author Fan, Hueng-Chuen
Lee, Hsiu-Fen
Chi, Ching-Shiang
author_facet Fan, Hueng-Chuen
Lee, Hsiu-Fen
Chi, Ching-Shiang
author_sort Fan, Hueng-Chuen
collection PubMed
description Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures.
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spelling pubmed-81677282021-06-02 SCN8A Encephalopathy: Case Report and Literature Review Fan, Hueng-Chuen Lee, Hsiu-Fen Chi, Ching-Shiang Neurol Int Case Report Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures. MDPI 2021-04-01 /pmc/articles/PMC8167728/ /pubmed/33915942 http://dx.doi.org/10.3390/neurolint13020014 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Case Report
Fan, Hueng-Chuen
Lee, Hsiu-Fen
Chi, Ching-Shiang
SCN8A Encephalopathy: Case Report and Literature Review
title SCN8A Encephalopathy: Case Report and Literature Review
title_full SCN8A Encephalopathy: Case Report and Literature Review
title_fullStr SCN8A Encephalopathy: Case Report and Literature Review
title_full_unstemmed SCN8A Encephalopathy: Case Report and Literature Review
title_short SCN8A Encephalopathy: Case Report and Literature Review
title_sort scn8a encephalopathy: case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167728/
https://www.ncbi.nlm.nih.gov/pubmed/33915942
http://dx.doi.org/10.3390/neurolint13020014
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