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

ABSTRACT: 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).

SUBMITTER: Shimada S 

PROVIDER: S-EPMC4777018 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Shimada Shino S   Hirano Yoshiko Y   Ito Susumu S   Oguni Hirokazu H   Nagata Satoru S   Shimojima Keiko K   Yamamoto Toshiyuki T  

Human genome variation 20141204

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). ...[more]

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