A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures

Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of this disorder. We encountered a sporadic patient with EIFMS, who suffered tonic convulsi...

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Autores principales: Shimada, Shino, Hirano, Yoshiko, Ito, Susumu, Oguni, Hirokazu, Nagata, Satoru, Shimojima, Keiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777018/
https://www.ncbi.nlm.nih.gov/pubmed/27081515
http://dx.doi.org/10.1038/hgv.2014.27
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author Shimada, Shino
Hirano, Yoshiko
Ito, Susumu
Oguni, Hirokazu
Nagata, Satoru
Shimojima, Keiko
Yamamoto, Toshiyuki
author_facet Shimada, Shino
Hirano, Yoshiko
Ito, Susumu
Oguni, Hirokazu
Nagata, Satoru
Shimojima, Keiko
Yamamoto, Toshiyuki
author_sort Shimada, Shino
collection PubMed
description Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of this disorder. We encountered a sporadic patient with EIFMS, who suffered tonic convulsions at the age of 9 days. Using Sanger sequencing, we identified a de novo missense mutation of the same amino acid affected by a previously identified mutation, c.1420C>T (p.Arg474Cys).
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spelling pubmed-47770182016-04-14 A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures Shimada, Shino Hirano, Yoshiko Ito, Susumu Oguni, Hirokazu Nagata, Satoru Shimojima, Keiko Yamamoto, Toshiyuki Hum Genome Var Data Report Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of this disorder. We encountered a sporadic patient with EIFMS, who suffered tonic convulsions at the age of 9 days. Using Sanger sequencing, we identified a de novo missense mutation of the same amino acid affected by a previously identified mutation, c.1420C>T (p.Arg474Cys). Nature Publishing Group 2014-12-04 /pmc/articles/PMC4777018/ /pubmed/27081515 http://dx.doi.org/10.1038/hgv.2014.27 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Shimada, Shino
Hirano, Yoshiko
Ito, Susumu
Oguni, Hirokazu
Nagata, Satoru
Shimojima, Keiko
Yamamoto, Toshiyuki
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title_full A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title_fullStr A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title_full_unstemmed A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title_short A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
title_sort novel kcnt1 mutation in a japanese patient with epilepsy of infancy with migrating focal seizures
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777018/
https://www.ncbi.nlm.nih.gov/pubmed/27081515
http://dx.doi.org/10.1038/hgv.2014.27
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