Publications by authors named "Satoshi Uchiya"
Article Synopsis
- * Over 10 new missense mutations have been discovered in benign familial neonatal-infantile seizures, while only one nonsense mutation has been noted in a child with severe epilepsy and mental decline.
- * Recent findings also include a microduplication on chromosome 2q24.3 associated with neonatal seizures and intellectual disability, and studies show that SCN2A mutations can lead to various defects in sodium channel function without a clear pattern between genetic changes and clinical symptoms.
Article Synopsis
- Mutations in the SCN2A gene, which encodes a sodium channel subunit, are linked to benign familial neonatal-infantile seizures (BFNIS), and specific mutations were investigated in relation to Dravet syndrome.
- The study involved screening 59 Dravet syndrome patients for mutations in SCN1A, SCN2A, and GABRG2, revealing 29 SCN1A mutations and three SCN2A missense mutations.
- One significant de novo SCN2A mutation (c.3935G>C: R1312T) was identified as potentially pathogenic due to its effect on the channel’s voltage sensor, indicating that both nonsense and missense mutations in SCN2A
