TY - JOUR
T1 - Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
AU - Ohmori, Iori
AU - Ohtsuka, Yoko
AU - Ouchida, Mamoru
AU - Ogino, Tatsuya
AU - Maniwa, Satoshi
AU - Shimizu, Kenji
AU - Oka, Eiji
N1 - Funding Information:
We are grateful to the patients and their families for their participation in this study. This study was supported by a Grant (13A) for Nervous and Medical Disorders from the Ministry of Health Labor and Welfare of Japan.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2003/10
Y1 - 2003/10
N2 - We classified 28 patients with severe myoclonic epilepsy in infancy (SME) according to the presence or absence of myoclonic seizures and/or atypical absences. Eleven of the patients had myoclonic seizures and/or atypical absences, and we refer to this condition as 'typical SME (TSME)'. Seventeen of the patients had only segmental myoclonias, and we refer to this condition as 'borderline SME (BSME)'. We then analyzed the electroclinical and genetic characteristics of these two groups. Ten of the 11 TSME patients had a photoparoxysmal response at some time during their clinical course, while none of the BSME patients showed this response. TSME and BSME showed a significant difference in regard to gender ratio: female dominance in TSME and male dominance in BSME (P=0.008). The detection rate of the voltage-gated sodium channel α1-subunit (SCN1A) gene mutations was 72.7 and 88.2% in TSME and BSME, respectively. There was no difference in the type or rate of mutation between TSME and BSME. We conclude that TSME and BSME show distinct differences in photoparoxysmal response and gender, which might be caused by some genetic mechanism(s) other than the SCN1A gene mutation.
AB - We classified 28 patients with severe myoclonic epilepsy in infancy (SME) according to the presence or absence of myoclonic seizures and/or atypical absences. Eleven of the patients had myoclonic seizures and/or atypical absences, and we refer to this condition as 'typical SME (TSME)'. Seventeen of the patients had only segmental myoclonias, and we refer to this condition as 'borderline SME (BSME)'. We then analyzed the electroclinical and genetic characteristics of these two groups. Ten of the 11 TSME patients had a photoparoxysmal response at some time during their clinical course, while none of the BSME patients showed this response. TSME and BSME showed a significant difference in regard to gender ratio: female dominance in TSME and male dominance in BSME (P=0.008). The detection rate of the voltage-gated sodium channel α1-subunit (SCN1A) gene mutations was 72.7 and 88.2% in TSME and BSME, respectively. There was no difference in the type or rate of mutation between TSME and BSME. We conclude that TSME and BSME show distinct differences in photoparoxysmal response and gender, which might be caused by some genetic mechanism(s) other than the SCN1A gene mutation.
KW - Generalized epilepsy with febrile seizures plus
KW - Phenotype
KW - SCN1A
KW - Severe myoclonic epilepsy in infancy
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U2 - 10.1016/S0387-7604(03)00038-X
DO - 10.1016/S0387-7604(03)00038-X
M3 - Article
C2 - 13129592
AN - SCOPUS:0345304764
VL - 25
SP - 488
EP - 493
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 7
ER -