title: Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
abstract: Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.
authors.affiliation: Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: A-C
authors.initials: AC
authors.lastname: Thuresson
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.|Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.affiliation: FRIGE's Institute of Human Genetics, Ahmedabad, India.
authors.forename: F
authors.initials: F
authors.lastname: Sheth
authors.affiliation: Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, India.
authors.forename: M
authors.initials: M
authors.lastname: Kamate
authors.affiliation: Laboratoire de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France.
authors.forename: J
authors.initials: J
authors.lastname: Andrieux
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.|Institute of Human Development, University of Manchester, Manchester, UK.
authors.forename: J
authors.initials: J
authors.lastname: Clayton Smith
authors.affiliation: Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Soussi Zander
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007360:Intelligence; D008297:Male; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D062552:NAV1.3 Voltage-Gated Sodium Channel / Q000235:genetics*; D012640:Seizures / Q000235:genetics* / Q000523:psychology; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D062552:NAV1.3 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human; C424715:SCN3A protein, human; D015222:Sodium Channels
keywords: 2q24 duplication; SCN2A; benign familial neonatal-infantile seizures; neonatal epilepsy; voltage-gated sodium channel