Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

Iori Ohmori, Yoko Ohtsuka, Mamoru Oouchida, Tatsuya Ogino, Satoshi Maniwa, Kenji Shimizu, Eiji Oka

Research output: Contribution to journal › Article

38 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)488-493
Number of pages6
JournalBrain and Development
Volume25
Issue number7
DOIs
Publication statusPublished - Oct 2003

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Myoclonic Epilepsy
Phenotype
Mutation
Voltage-Gated Sodium Channels
Absence Epilepsy
Mutation Rate
Genes
Seizures

Keywords

  • Generalized epilepsy with febrile seizures plus
  • Phenotype
  • SCN1A
  • Severe myoclonic epilepsy in infancy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? / Ohmori, Iori; Ohtsuka, Yoko; Oouchida, Mamoru; Ogino, Tatsuya; Maniwa, Satoshi; Shimizu, Kenji; Oka, Eiji.

In: Brain and Development, Vol. 25, No. 7, 10.2003, p. 488-493.

Research output: Contribution to journal › Article

Ohmori, I, Ohtsuka, Y, Oouchida, M, Ogino, T, Maniwa, S, Shimizu, K & Oka, E 2003, 'Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?', Brain and Development, vol. 25, no. 7, pp. 488-493. https://doi.org/10.1016/S0387-7604(03)00038-X
Ohmori I, Ohtsuka Y, Oouchida M, Ogino T, Maniwa S, Shimizu K et al. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain and Development. 2003 Oct;25(7):488-493. https://doi.org/10.1016/S0387-7604(03)00038-X
Ohmori, Iori ; Ohtsuka, Yoko ; Oouchida, Mamoru ; Ogino, Tatsuya ; Maniwa, Satoshi ; Shimizu, Kenji ; Oka, Eiji. / Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?. In: Brain and Development. 2003 ; Vol. 25, No. 7. pp. 488-493.
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AU - Maniwa, Satoshi

AU - Shimizu, Kenji

AU - Oka, Eiji

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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.

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