title: Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
abstract: SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
authors.affiliation: Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia. dazmanov@waimr.uwa.edu.au
authors.forename: Dimitar N
authors.initials: DN
authors.lastname: Azmanov
authors.forename: Sashka
authors.initials: S
authors.lastname: Zhelyazkova
authors.forename: Petya S
authors.initials: PS
authors.lastname: Dimova
authors.forename: Melania
authors.initials: M
authors.lastname: Radionova
authors.forename: Veneta
authors.initials: V
authors.lastname: Bojinova
authors.forename: Laura
authors.initials: L
authors.lastname: Florez
authors.forename: Shelagh J
authors.initials: SJ
authors.lastname: Smith
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Assen
authors.initials: A
authors.lastname: Jablensky
authors.forename: John
authors.initials: J
authors.lastname: Mulley
authors.forename: Ingrid
authors.initials: I
authors.lastname: Scheffer
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: Josemir W
authors.initials: JW
authors.lastname: Sander
mesh_terms: D000293:Adolescent; D000483:Alleles; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics*; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D006178:Romani People / Q000235:genetics*; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics*; D012815:Signal Processing, Computer-Assisted; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels