Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the α1-subunit of the neuronal voltage-gated sodium channel. We report two unrelated families in which proband...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 2006-03, Vol.341 (2), p.489-493
Main Authors: Gennaro, Elena, Santorelli, Filippo M., Bertini, Enrico, Buti, Daniela, Gaggero, Roberto, Gobbi, Giuseppe, Lini, Marcella, Granata, Tiziana, Freri, Elena, Parmeggiani, Antonia, Striano, Pasquale, Veggiotti, Pierangelo, Cardinali, Simona, Bricarelli, Franca Dagna, Minetti, Carlo, Zara, Federico
Format: Article
Language:English
Subjects:
Alleles
Chromatography, High Pressure Liquid
Chromosome Mapping
Epilepsies, Myoclonic - genetics
Epilepsy
Family Health
Female
Frameshift Mutation
Genetic Linkage
Genotype
Germ-Line Mutation
Germline
Humans
Ion channel
Ions - metabolism
Male
Microsatellite Repeats
Mosaicism
Mutation
Mutation, Missense
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - genetics
Neurons - metabolism
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
SCN1A
Sequence Analysis, DNA
Siblings
SMEI
Sodium Channels - genetics
Somatic
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Summary:Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the α1-subunit of the neuronal voltage-gated sodium channel. We report two unrelated families in which probands were affected by SMEI and their parents showed a single febrile seizure during early childhood or no neurological symptoms. Semiquantitative analysis of SCN1A mutations allowed the detection of a somatic and germline mosaicism in one of the parents. The study provides the first example of parental mosaicisms in SMEI and opens a new insight into the phenotypic variability and complex inheritance of this condition. The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2005.12.209