Publications by authors named "Yu Tomioka"
Epilepsy Behav
October 2012
Article Synopsis
- - A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) presented unique features not typically seen, including an earlier onset and resistance to traditional epilepsy medications.
- - Genetic testing uncovered mutations in two genes: a novel mutation and a silent substitution in SCN1A, along with a known mutation in CHRNB2, indicating complex genetic involvement.
- - The patient exhibited borderline intellectual functioning and developmental disorders, with further research needed to understand how SCN1A mutations relate to ADNFLE's characteristics.
