Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Autor(es)

Victorino Krepischi, Ana Cristina ^{[1, 2]} ; Knijnenburg, Jeroen ^[3] ; Bertola, Debora Romeo ^[4] ; Kim, Chong Ae ^[4] ; Pearson, Peter Lees ^[1] ; Bijlsma, Emilia ^[5] ; Szuhai, Karoly ^[3] ; Kok, Fernando ^{[6, 7]} ; Vianna-Morgante, Angela Maria ^[1] ; Rosenberg, Carla ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05422970 Sao Paulo - Brazil

^[2] AC Camargo Hosp, Sao Paulo - Brazil

^[3] Leiden Univ, Med Ctr, Dept Mol Cell Biol, Leiden - Netherlands

^[4] Univ Sao Paulo, Hosp Clin, Inst Crianca, Clin Genet Unit, BR-05422970 Sao Paulo - Brazil

^[5] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden - Netherlands

^[6] Univ Sao Paulo, Hosp Clin, Dept Neurol, BR-05422970 Sao Paulo - Brazil

^[7] Fleury Med & Heath, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Epilepsia; v. 51, n. 12, p. 2457-2460, DEC 2010.
• Citações Web of Science: 30

Resumo

P>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. (AU)

• Processo FAPESP: 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental
• Beneficiário: Carla Rosenberg
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 98/14254-2 - Centro de Estudos do Genoma Humano
• Beneficiário: Mayana Zatz
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs