Abstract:
:Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal-infantile seizure (BFNIS). We describe two large families with BFNIS and novel SCN2A mutations. The families had 12 and 9 affected individuals, respectively, with phenotypes consistent with BFNIS. Two mutations were discovered in SCN2A (E430Q; I1596S). Both families had individuals with neonatal onset but the typical age of onset was in the early infantile period (mean 3.0 months). One mutation positive individual, with an otherwise typical clinical pattern, had seizures beginning at 13 months. Two individuals with SCN2A mutations were identified with seizures in later life. In each family a single individual with infantile seizures was mutation negative and thus represented phenocopies. This study extends the age range of presentation of BFNIS, confirms that neonatal and early infantile onsets are characteristic, and emphasizes the role of molecular diagnosis to confirm the etiology.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Herlenius E,Heron SE,Grinton BE,Keay D,Scheffer IE,Mulley JC,Berkovic SFdoi
10.1111/j.1528-1167.2007.01049.xsubject
Has Abstractpub_date
2007-06-01 00:00:00pages
1138-42issue
6eissn
0013-9580issn
1528-1167pii
EPI1049journal_volume
48pub_type
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