Download PDF
Journal of Pediatric Epilepsy 2017; 06(02): 111-114
DOI: 10.1055/s-0037-1599191
Original Article
Georg Thieme Verlag KG Stuttgart · New York

SCN1A Does Not Determine Seizure Duration in Children Unaffected by Dravet's Syndrome

François Le Gal
1   Molecular Diagnostic Laboratory, Genetic Medicine Service, University Hospitals, Geneva, Switzerland
,
Sébastien Lebon
2   Pediatric Neurology Unit, Department of Paediatrics, Lausanne University Hospital, Switzerland
,
Gian Paolo Ramelli
3   Pediatric Neurology, Regional Hospital, Bellinzona, Switzerland
,
Alexandre N. Datta
4   Pediatric Neurology, Cantonal Hospital, Basel, Switzerland
,
Danielle Mercati
5   Pediatric Neurology, Cantonal Hospital, Neuchâtel, Switzerland
,
Oliver Maier
6   Pediatric Neurology, Children's Hospital, St. Gallen, Switzerland
,
Christophe Combescure
7   Clinical Research Center, Division of Clinical Epidemiology, Department of Health and Community Medicine, University of Geneva, University Hospitals, Geneva, Switzerland
,
Maria Isabel Rodriguez
8   Clinical Research Platform, Child and Adolescent Department, University Hospitals, Geneva, Switzerland
,
Margitta Seeck
9   Clinical Neurosciences Department, University Hospitals, Geneva, Switzerland
,
Eliane Roulet
2   Pediatric Neurology Unit, Department of Paediatrics, Lausanne University Hospital, Switzerland
,
Christian M. Korff
10   Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland
› Author Affiliations
Further Information

Publication History

08 July 2016

01 October 2016

Publication Date:
02 March 2017 (online)

    Permissions and Reprints

Abstract

A significant proportion of children with seizures present with status epilepticus (SE), early in their disease. Our objective was to evaluate whether SCN1A variants predispose children to SE, outside of Dravet's syndrome. SCN1A analyses were performed in children aged 1 month to 16 years with at least one episode of status epilepticus (group A), and in children with short seizures only (group B). Clinical and genetic findings were compared between both groups. Total 99 children were included: 61 in group A, 38 in group B. SCN1A variants were found in 2 (3.3%) of 61 patients with status epilepticus and in 3 (7.9%) of 38 patients with short seizures. The difference between both groups was −4.6% (95% CI −18 to 5.1), and was not statistically significant (p = 0.37, Fisher's exact test). In four of these five children, seizures were observed in a GEFS+ familial context. The last patient had a generalized genetic epilepsy not further determined. SCN1A variants were not significantly more frequent in group A than in group B. Their predicted severity was not higher. Our results indicate that SCN1A variants per se do not determine seizure duration in children not affected by Dravet's syndrome.

Keywords

seizures - childhood - duration - SCN1A
 

  • References

  • 1 Shinnar S, Berg AT, Moshe SL, Shinnar R. How long do new-onset seizures in children last?. Ann Neurol 2001; 49 (5) 659-664
    CrossrefPubMedGoogle Scholar
  • 2 Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011; 76 (7) 594-600
    CrossrefPubMedGoogle Scholar
  • 3 Le Gal F, Lebon S, Ramelli GP , et al. When is a child with status epilepticus likely to have Dravet syndrome?. Epilepsy Res 2014; 108 (4) 740-747
    CrossrefPubMedGoogle Scholar
  • 4 Berg AT, Shinnar S, Testa FM , et al. Status epilepticus after the initial diagnosis of epilepsy in children. Neurology 2004; 63 (6) 1027-1034
    CrossrefPubMedGoogle Scholar
  • 5 Bhatnagar M, Shorvon S. Genetic mutations associated with status epilepticus. Epilepsy Behav 2015; 49: 104-110
    CrossrefPubMedGoogle Scholar
  • 6 Neubauer BA, Hahn A. Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues. Epileptic Disord 2014; 16 (Spec No 1): S89-S95
    PubMedGoogle Scholar