title: Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.
abstract: We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.
authors.affiliation: Dept. Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Baran
authors.initials: B
authors.lastname: Bayindir
authors.forename: Elena
authors.initials: E
authors.lastname: Piazza
authors.forename: Erika
authors.initials: E
authors.lastname: Della Mina
authors.forename: Ivan
authors.initials: I
authors.lastname: Limongelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Brustia
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Veggiotti
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Mohammed Reza
authors.initials: MR
authors.lastname: Dehghani
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D014178:Translocation, Genetic; D016896:Treatment Outcome; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D002135:Calcium-Binding Proteins; C488528:LETM1 protein, human; D008565:Membrane Proteins; D014635:Valproic Acid
keywords: Dravet syndrome; WHS; der(4)t(4;8)(p16.3,p23.3)