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

François Le Gal; Sébastien Lebon; Gian Paolo Ramelli; Alexandre N. Datta; Danielle Mercati; Oliver Maier; Christophe Combescure; Maria Isabel Rodriguez; Margitta Seeck; Eliane Roulet; Christian M. Korff

doi:10.1055/s-0037-1599191

Journal of Pediatric Epilepsy, Table of Contents

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

Authors

François Le Gal

¹Molecular Diagnostic Laboratory, Genetic Medicine Service, University Hospitals, Geneva, Switzerland
Sébastien Lebon

²Pediatric Neurology Unit, Department of Paediatrics, Lausanne University Hospital, Switzerland
Gian Paolo Ramelli

³Pediatric Neurology, Regional Hospital, Bellinzona, Switzerland
Alexandre N. Datta

⁴Pediatric Neurology, Cantonal Hospital, Basel, Switzerland
Danielle Mercati

⁵Pediatric Neurology, Cantonal Hospital, Neuchâtel, Switzerland
Oliver Maier

⁶Pediatric Neurology, Children's Hospital, St. Gallen, Switzerland
Christophe Combescure

⁷Clinical Research Center, Division of Clinical Epidemiology, Department of Health and Community Medicine, University of Geneva, University Hospitals, Geneva, Switzerland
Maria Isabel Rodriguez

⁸Clinical Research Platform, Child and Adolescent Department, University Hospitals, Geneva, Switzerland
Margitta Seeck

⁹Clinical Neurosciences Department, University Hospitals, Geneva, Switzerland
Eliane Roulet

²Pediatric Neurology Unit, Department of Paediatrics, Lausanne University Hospital, Switzerland
Christian M. Korff

¹⁰Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland

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

Full Text

References

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