Authors
Pasquale Striano, Laura Bordo, Maria Luisa Lispi, Nicola Specchio, Carlo Minetti, Federico Vigevano, Federico Zara
Publication date
2006/1
Journal
Epilepsia
Volume
47
Issue
1
Pages
218-220
Publisher
Blackwell Science Inc
Description
Benign familial infantile seizures (BFIS) is a clinical entity characterized by focal seizures with or without secondary generalization, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. BFIS is a genetically heterogenous condition with loci mapped to chromosomes 19 and 16. Mutations in the voltage‐gated sodium channel α2 subunit (SCN2A) gene on chromosome 2 were recently identified in families affected by neonatal and infantile seizures (benign familial neonatal–infantile seizures, BFNIS) with typical onset before 4 months of life. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS show overlapping clinical features.
We report a pedigree showing three affected individuals over three generations. All subjects experienced clusters of …
Total citations
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Scholar articles
P Striano, L Bordo, ML Lispi, N Specchio, C Minetti… - Epilepsia, 2006