Cargando…
SCN8A mutation in a child presenting with seizures and developmental delays
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially e...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2016
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111007/ https://www.ncbi.nlm.nih.gov/pubmed/27900360 http://dx.doi.org/10.1101/mcs.a001073 |
| _version_ | 1782467789340016640 |
|---|---|
| author | Malcolmson, Janet Kleyner, Robert Tegay, David Adams, Whit Ward, Kenneth Coppinger, Justine Nelson, Lesa Meisler, Miriam H. Wang, Kai Robison, Reid Lyon, Gholson J. |
| author_facet | Malcolmson, Janet Kleyner, Robert Tegay, David Adams, Whit Ward, Kenneth Coppinger, Justine Nelson, Lesa Meisler, Miriam H. Wang, Kai Robison, Reid Lyon, Gholson J. |
| author_sort | Malcolmson, Janet |
| collection | PubMed |
| description | The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own. |
| format | Online Article Text |
| id | pubmed-5111007 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Cold Spring Harbor Laboratory Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51110072016-11-29 SCN8A mutation in a child presenting with seizures and developmental delays Malcolmson, Janet Kleyner, Robert Tegay, David Adams, Whit Ward, Kenneth Coppinger, Justine Nelson, Lesa Meisler, Miriam H. Wang, Kai Robison, Reid Lyon, Gholson J. Cold Spring Harb Mol Case Stud Research Report The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own. Cold Spring Harbor Laboratory Press 2016-11 /pmc/articles/PMC5111007/ /pubmed/27900360 http://dx.doi.org/10.1101/mcs.a001073 Text en © 2016 Malcolmson et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited. |
| spellingShingle | Research Report Malcolmson, Janet Kleyner, Robert Tegay, David Adams, Whit Ward, Kenneth Coppinger, Justine Nelson, Lesa Meisler, Miriam H. Wang, Kai Robison, Reid Lyon, Gholson J. SCN8A mutation in a child presenting with seizures and developmental delays |
| title | SCN8A mutation in a child presenting with seizures and developmental delays |
| title_full | SCN8A mutation in a child presenting with seizures and developmental delays |
| title_fullStr | SCN8A mutation in a child presenting with seizures and developmental delays |
| title_full_unstemmed | SCN8A mutation in a child presenting with seizures and developmental delays |
| title_short | SCN8A mutation in a child presenting with seizures and developmental delays |
| title_sort | scn8a mutation in a child presenting with seizures and developmental delays |
| topic | Research Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111007/ https://www.ncbi.nlm.nih.gov/pubmed/27900360 http://dx.doi.org/10.1101/mcs.a001073 |
| work_keys_str_mv | AT malcolmsonjanet scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT kleynerrobert scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT tegaydavid scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT adamswhit scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT wardkenneth scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT coppingerjustine scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT nelsonlesa scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT meislermiriamh scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT wangkai scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT robisonreid scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays AT lyongholsonj scn8amutationinachildpresentingwithseizuresanddevelopmentaldelays |