Massimiliano Chetta

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The KCNT1 gene encodes for subunits contributing to the Na(+)-activated K(+) current (KNa), expressed in many cell types. Mutations in KCNT1 have been found in patients affected with a wide spectrum of early-onset epilepsies, including Malignant Migrating Partial Seizures in Infancy (MMPSI), a severe early-onset epileptic encephalopathy characterized by(More)
1. Case description We report the clinical history of a boy, affected by early-onset epileptic encephalopathy with an episode of phenytoin neurotox-icity, found by whole exome sequencing to carry a previously undescribed mutation of the STXBP1 gene, combined with two heterozygous missense mutations in the same exon of the CYP2C9 gene. A male, was born at 40(More)
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