SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases.

Content Provider	Europe PMC
Author	Fatema, Kanij Rahman, Md Mizanur Faruk, Omar
Copyright Year	2019
Abstract	Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopathy. Both cases had mutation in p.Arg1872Gin the SCN8A gene, which was detected by targeted next generation sequencing. Case 1 was a 14-month old boy, who had a normal birth history with normal development up to 6 months and then developed repeated generalized seizure, which was nonresponsive to multiple antiepileptic drugs. He also had neuroregression and dystonia. His electroencephalogram (EEG) showed progressive background abnormality with burst suppression pattern. His metabolic panel was normal and had partial response to carbamazepine. The second case was for an 11-month old boy with the onset of seizure at the age of 7 months. Seizure was generalized, resistant to multiple antiepileptic drugs. He had developmental delay from beginning, no movement disorder. EEG showed focal discharge from left temporal and occipital region. He showed partial response to oxcarbazepine. Our cases had similarities with the previously reported cases. The detailed discussion of our cases would contribute to early detection and targeted treatment of SCN8A encephalopathy. This also gives special emphasis on a genetic test in infants with intractable epilepsy, movement disorder and developmental delay.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC7251340&blobtype=pdf
ISSN	22336249
Journal	Journal of Epilepsy Research [J Epilepsy Res]
Volume Number	9
DOI	10.14581/jer.19017
PubMed Central reference number	PMC7251340
Issue Number	2
PubMed reference number	32509551
e-ISSN	22336257
Language	English
Publisher	Korean Epilepsy Society
Publisher Date	2019-12-31
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2019 Korean Epilepsy Society
Subject Keyword	Sodium voltage-gated channel alpha subunit 8 (SCN8A) Epileptic encephalopathy Epilepsy
Content Type	Text
Resource Type	Article
Subject	Neuroscience Medicine