title: Brain morphometry of Dravet syndrome.
abstract: The aim of this study was to identify differential global and local brain structural patterns in Dravet Syndrome (DS) patients as compared with a control subject group, using brain morphometry techniques which provide a quantitative whole-brain structural analysis that allows for specific patterns to be generalized across series of individuals. Nine patients with the diagnosis of DS that tested positive for mutation in the SCN1A gene and nine well-matched healthy controls were investigated using voxel brain morphometry (VBM), cortical thickness and cortical gyrification measurements. Global volume reductions of gray matter (GM) and white matter (WM) were related to DS. Local volume reductions corresponding to several white matter regions in brainstem, cerebellum, corpus callosum, corticospinal tracts and association fibers (left inferior fronto-occipital fasciculus and left uncinate fasciculus) were also found. Furthermore, DS showed a reduced cortical folding in the right precentral gyrus. The present findings describe DS-related brain structure abnormalities probably linked to the expression of the SCN1A mutation.
authors.affiliation: Basque Center on Cognition Brain and Language, BCBL, Donostia-San Sebastián, Spain. Electronic address: a.perez@bcbl.eu.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Pérez
authors.affiliation: Basque Center on Cognition Brain and Language, BCBL, Donostia-San Sebastián, Spain.
authors.forename: Lorna
authors.initials: L
authors.lastname: García-Pentón
authors.affiliation: Centro de Investigación Biomédica en Red de Salud Mental (CIBERSam), 28007 Madrid, Spain; FIDMAG Germanes Hospitalàries, 08830, Sant Boi de Llobregat, Barcelona, Spain.
authors.forename: Erick J
authors.initials: EJ
authors.lastname: Canales-Rodríguez
authors.affiliation: Basque Center on Cognition Brain and Language, BCBL, Donostia-San Sebastián, Spain.
authors.forename: Garikoitz
authors.initials: G
authors.lastname: Lerma-Usabiaga
authors.affiliation: Neuroimaging Department, Cuban Neuroscience Center, La Habana, Cuba.
authors.forename: Yasser
authors.initials: Y
authors.lastname: Iturria-Medina
authors.affiliation: Facultad de Psicología, Departamento de Psicología Biológica y de la Salud, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Román
authors.affiliation: Basque Center on Cognition Brain and Language, BCBL, Donostia-San Sebastián, Spain.
authors.forename: Doug
authors.initials: D
authors.lastname: Davidson
authors.affiliation: Instituto de Investigación Sanitaria Gregorio Marañón, IiSGM, HGUGM, CIBERSAM, Madrid, Spain.
authors.forename: Yasser
authors.initials: Y
authors.lastname: Alemán-Gómez
authors.affiliation: Euskal Herriko Unibertsitatea/Universidad del País Vasco EHU/UPV, Bilbao, Spain.
authors.forename: Joana
authors.initials: J
authors.lastname: Acha
authors.affiliation: Basque Center on Cognition Brain and Language, BCBL, Donostia-San Sebastián, Spain; Euskal Herriko Unibertsitatea/Universidad del País Vasco EHU/UPV, Bilbao, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Carreiras
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002648:Child; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D009929:Organ Size; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Cortical gyrification; Dravet Syndrome; Morphometry; SCN1A; VBM