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A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report
SCN8A gene encodes sodium channel alpha subunit Na(v)1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mattioli 1885
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523044/ https://www.ncbi.nlm.nih.gov/pubmed/35188110 http://dx.doi.org/10.23750/abm.v92iS1.11781 |
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author | Keshri, Swasti Goel, Anil Kumar Shah, Seema Garg, Ankit Kumar |
author_facet | Keshri, Swasti Goel, Anil Kumar Shah, Seema Garg, Ankit Kumar |
author_sort | Keshri, Swasti |
collection | PubMed |
description | SCN8A gene encodes sodium channel alpha subunit Na(v)1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who had an onset of infantile spasms on the seventeenth day of life, which gradually progressed to focal, multifocal, GTCS, and epileptic encephalopathy by one year of age associated with global developmental delay and hypotonia. All metabolic workup, TMS, GCMS, and MRI brain were normal. EEG at 2.5 months was suggestive of epileptic discharge arising from the left frontal region, evolving into generalized discharges. Whole exome sequencing revealed a heterozygous mutation in the SCN8A gene at exon 16 (p.Val892Ala) suggestive of Early Infantile Epileptic Encephalopathy-13 (EIEE-13). This is a novel mutation in the SCN8A gene which has not been reported previously in the literature. (www.actabiomedica.it) |
format | Online Article Text |
id | pubmed-10523044 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Mattioli 1885 |
record_format | MEDLINE/PubMed |
spelling | pubmed-105230442023-09-28 A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report Keshri, Swasti Goel, Anil Kumar Shah, Seema Garg, Ankit Kumar Acta Biomed Case Report SCN8A gene encodes sodium channel alpha subunit Na(v)1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who had an onset of infantile spasms on the seventeenth day of life, which gradually progressed to focal, multifocal, GTCS, and epileptic encephalopathy by one year of age associated with global developmental delay and hypotonia. All metabolic workup, TMS, GCMS, and MRI brain were normal. EEG at 2.5 months was suggestive of epileptic discharge arising from the left frontal region, evolving into generalized discharges. Whole exome sequencing revealed a heterozygous mutation in the SCN8A gene at exon 16 (p.Val892Ala) suggestive of Early Infantile Epileptic Encephalopathy-13 (EIEE-13). This is a novel mutation in the SCN8A gene which has not been reported previously in the literature. (www.actabiomedica.it) Mattioli 1885 2021 2021-11-04 /pmc/articles/PMC10523044/ /pubmed/35188110 http://dx.doi.org/10.23750/abm.v92iS1.11781 Text en Copyright: © 2021 ACTA BIO MEDICA SOCIETY OF MEDICINE AND NATURAL SCIENCES OF PARMA https://creativecommons.org/licenses/by-nc-sa/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License |
spellingShingle | Case Report Keshri, Swasti Goel, Anil Kumar Shah, Seema Garg, Ankit Kumar A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title | A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title_full | A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title_fullStr | A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title_full_unstemmed | A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title_short | A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report |
title_sort | novel scn8a mutation in a case of early-onset infantile epileptic encephalopathy: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523044/ https://www.ncbi.nlm.nih.gov/pubmed/35188110 http://dx.doi.org/10.23750/abm.v92iS1.11781 |
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