title: A novel SCN2A mutation in family with benign familial infantile seizures.
abstract: 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 alpha2 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 focal seizures with or without secondary generalization and onset between 4 and 12 months of life. Response to antiepileptic drugs and the outcome were good. No subjects had other forms of epilepsy later in the life. Neonatal or febrile seizures did not occur in the family. Genetic study in this family revealed a novel heterozygous mutation c.3003 T>A in the SCN2A gene. Comparative analysis of different sodium channel alpha subunits indicates that the mutated residue is highly conserved throughout the evolution, suggesting an important functional role for this domain. Additional families with the infantile form of benign familial seizures should be investigated to corroborate that BFIS and BFNIS may share the same genetic abnormality.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Laura
authors.initials: L
authors.lastname: Bordo
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lispi
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
mesh_terms: D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics / Q000378:metabolism; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005190:Family; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D015222:Sodium Channels