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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Detalles Bibliográficos
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
Descripción
Sumario: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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