title: Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
abstract: In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements.
authors.affiliation: Danish Epilepsy Centre, Dianalund, Denmark.
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
authors.forename: Lizette M
authors.initials: LM
authors.lastname: Schneider
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hansen
authors.forename: Merete
authors.initials: M
authors.lastname: Bugge
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D018450:Disease Progression; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D015222:Sodium Channels / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013226:Status Epilepticus / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels