Abstract
To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene, and γ-aminobutyric acidA receptor γ2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. Mutations of the SCN1A gene were detected in 24 of the 29 patients (82.7%) with SME, although none with other types of epilepsy. The mutations included deletion, insertion, missense, and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p <.0001). As we could not find SCN1A mutations in their parents, one of critical causes of SME may be de novo mutation of the SCN1A gene occurred in the course of meiosis in the parents.
| Original language | English |
|---|---|
| Pages (from-to) | 17-23 |
| Number of pages | 7 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 295 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2002 |
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Keywords
- GABRG2
- Generalized epilepsy with febrile seizures plus
- Neuronal voltage-gated sodium channel
- SCN1A
- SCN1B
- Sever myoclonic epilepsy in infancy
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Molecular Biology
Cite this
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. / Ohmori, Iori; Oouchida, Mamoru; Ohtsuka, Yoko; Oka, Eiji; Shimizub, Kenji.
In: Biochemical and Biophysical Research Communications, Vol. 295, No. 1, 2002, p. 17-23.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
AU - Ohmori, Iori
AU - Oouchida, Mamoru
AU - Ohtsuka, Yoko
AU - Oka, Eiji
AU - Shimizub, Kenji
PY - 2002
Y1 - 2002
N2 - To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene, and γ-aminobutyric acidA receptor γ2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. Mutations of the SCN1A gene were detected in 24 of the 29 patients (82.7%) with SME, although none with other types of epilepsy. The mutations included deletion, insertion, missense, and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p <.0001). As we could not find SCN1A mutations in their parents, one of critical causes of SME may be de novo mutation of the SCN1A gene occurred in the course of meiosis in the parents.
AB - To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene, and γ-aminobutyric acidA receptor γ2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. Mutations of the SCN1A gene were detected in 24 of the 29 patients (82.7%) with SME, although none with other types of epilepsy. The mutations included deletion, insertion, missense, and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p <.0001). As we could not find SCN1A mutations in their parents, one of critical causes of SME may be de novo mutation of the SCN1A gene occurred in the course of meiosis in the parents.
KW - GABRG2
KW - Generalized epilepsy with febrile seizures plus
KW - Neuronal voltage-gated sodium channel
KW - SCN1A
KW - SCN1B
KW - Sever myoclonic epilepsy in infancy
UR - http://www.scopus.com/inward/record.url?scp=0036304363&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036304363&partnerID=8YFLogxK
U2 - 10.1016/S0006-291X(02)00617-4
DO - 10.1016/S0006-291X(02)00617-4
M3 - Article
C2 - 12083760
AN - SCOPUS:0036304363
VL - 295
SP - 17
EP - 23
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 1
ER -