Back to Search
Start Over
A Novel SCN2A Mutation in Family with Benign Familial Infantile Seizures
- Source :
- Epilepsia. 47:218-220
- Publication Year :
- 2006
- Publisher :
- Wiley, 2006.
-
Abstract
- Summary: 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 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 α 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.
- Subjects :
- Male
Pathology
DNA Mutational Analysis
genetics/metabolism
Epilepsies
Bioinformatics
medicine.disease_cause
Infantile
Sodium Channels
Spasms
Infantile seizures
Epilepsy
Diagnosis
genetics
Age of Onset
Child
Psychomotor learning
Mutation
Age of Onset, Anticonvulsants
therapeutic use, Child, Chromosomes
Human
Pair 16
genetics, Chromosomes
Pair 19
Pair 2
genetics/metabolism, DNA Mutational Analysis, Diagnosis
Differential, Electroencephalography, Epilepsies
Partial
genetics/metabolism, Epilepsy
Benign Neonatal
diagnosis/drug therapy/genetics, Family, Heterozygote Detection, Humans, Infant, Male, Mutation, Pedigree, Phenotype, Sodium Channels
genetics/metabolism, Spasms
diagnosis/genetics, Treatment Outcome
Electroencephalography
Pedigree
Phenotype
Treatment Outcome
Neurology
Anticonvulsants
medicine.medical_specialty
Heterozygote Detection
Chromosomes
Central nervous system disease
diagnosis/drug therapy/genetics
medicine
Humans
Family
Gene
business.industry
Infant
Chromosome
medicine.disease
El Niño
therapeutic use
Differential
Neurology (clinical)
business
diagnosis/genetics
Subjects
Details
- ISSN :
- 15281167 and 00139580
- Volume :
- 47
- Database :
- OpenAIRE
- Journal :
- Epilepsia
- Accession number :
- edsair.doi.dedup.....b05f952d2d0cee3561118ad517e740ba