title: Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
abstract: Approximately 50% of all carriers of 2q21-q31 deletions present epileptic seizures. The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively. A further putative locus involving epilepsy in the region was previously identified through disruption of the SLC4A10 gene by translocation. In the course of performing high-resolution DNA copy number analyses on syndromic mentally impaired individuals, we encountered three patients with overlapping deletions in chromosome region 2q24. Two of these patients exhibited epileptic seizures in addition to mental deficiency. The deletion in one of the epileptic patients did not include the SCN cluster, demonstrating that a less severe form of epilepsy maps to an adjacent genomic region. This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
authors.forename: Ana Cristina Victorino
authors.initials: AC
authors.lastname: Krepischi
authors.forename: Jeroen
authors.initials: J
authors.lastname: Knijnenburg
authors.forename: Debora Romeo
authors.initials: DR
authors.lastname: Bertola
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Peter Lees
authors.initials: PL
authors.lastname: Pearson
authors.forename: Emilia
authors.initials: E
authors.lastname: Bijlsma
authors.forename: Karoly
authors.initials: K
authors.lastname: Szuhai
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.forename: Angela Maria
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D017384:Sequence Deletion; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; C568251:SCN2A protein, human; D015222:Sodium Channels