PURPOSE: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. METHODS: We performed mutation analyses of the sodium-channel gene SCN1A in two Japanese brothers with clinical features of SMEI and their parents, who had no history of febrile and epileptic seizures. RESULTS: Each patient showed nucleotide changes (c.[730G>T; 735G>T; 736A>T]) in the coding exon 6 of SCN1A that led to a truncation of the channel protein. Their father showed no mutations, but their mother showed the same mutation in a subpopulation of lymphocytes. CONCLUSIONS: The maternal mosaicism explains the identical SCN1A mutations in the two brothers. This highlights the importance of investigating parental mosaicism even in sporadic SMEI cases.
PURPOSE: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. METHODS: We performed mutation analyses of the sodium-channel gene SCN1A in two Japanese brothers with clinical features of SMEI and their parents, who had no history of febrile and epileptic seizures. RESULTS: Each patient showed nucleotide changes (c.[730G>T; 735G>T; 736A>T]) in the coding exon 6 of SCN1A that led to a truncation of the channel protein. Their father showed no mutations, but their mother showed the same mutation in a subpopulation of lymphocytes. CONCLUSIONS: The maternal mosaicism explains the identical SCN1A mutations in the two brothers. This highlights the importance of investigating parental mosaicism even in sporadic SMEI cases.
Authors: I Ogiwara; K Ito; Y Sawaishi; H Osaka; E Mazaki; I Inoue; M Montal; T Hashikawa; T Shike; T Fujiwara; Y Inoue; M Kaneda; K Yamakawa Journal: Neurology Date: 2009-09-29 Impact factor: 9.910
Authors: Gustavo A Patino; Lieve R F Claes; Luis F Lopez-Santiago; Emily A Slat; Raja S R Dondeti; Chunling Chen; Heather A O'Malley; Charles B B Gray; Haruko Miyazaki; Nobuyuki Nukina; Fumitaka Oyama; Peter De Jonghe; Lori L Isom Journal: J Neurosci Date: 2009-08-26 Impact factor: 6.167
Authors: Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley Journal: Neurotherapeutics Date: 2007-04 Impact factor: 7.620