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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Shimada, Shino, Hirano, Yoshiko, Ito, Susumu, Oguni, Hirokazu, Nagata, Satoru, Shimojima, Keiko, Yamamoto, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4777018/
https://ncbi.nlm.nih.gov/pubmed/27081515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.27
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