SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

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 epilepti...

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Published in:Epilepsia (Copenhagen) 2006-10, Vol.47 (10), p.1732-1736
Main Authors: Morimoto, Masafumi, Mazaki, Emi, Nishimura, Akira, Chiyonobu, Tomohiro, Sawai, Yasuko, Murakami, Aki, Nakamura, Keiko, Inoue, Ikuyo, Ogiwara, Ikuo, Sugimoto, Tohru, Yamakawa, Kazuhiro
Format: Article
Language:English
Subjects:
Anticonvulsants. Antiepileptics. Antiparkinson agents
Biological and medical sciences
Child, Preschool
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
Epilepsies, Myoclonic - diagnosis
Epilepsies, Myoclonic - epidemiology
Epilepsies, Myoclonic - genetics
Epithelial Sodium Channels - genetics
Family
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Japan - epidemiology
Male
Medical sciences
Mosaicism
Mosaicism - statistics & numerical data
Mutation - genetics
Nervous system (semeiology, syndromes)
Neurology
Neuropharmacology
Parents
Pharmacology. Drug treatments
SCN1A
Severe myoclonic epilepsy in infancy
Siblings
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Summary: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.
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1167.2006.00645.x