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Investigating a stop-gain variant associate with cell differentiation and synaptic machinery in focal cortical dysplasia

MARIANA MARTIN 1 ; ISCIA TERESINHA LOPES CENDES 2 ; SIMONI HELENA AVANSINI 3 ; FÁBIO. R. TORRES 3 ; PATRÍCIA. A. O. RIBEIRO 3 ; Murilo Borges 4 ; BENILTON CARVALHO 3 ; RODRIGO SECOLIN 3 ; MARILZA LIMA SANTOS 3 ; ANDRÉ S. VIEIRA 3 ; FABIO ROGERIO 3 ; ANA CAROLINA COAN 3 ; LUCIANO S.QUEIROZ 3 ; FERNANDO CENDES 3
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C-terminal binding protein 2 (CTBP2) gene can be related with mechanisms involved in the pathogenesis of type II Focal cortical dysplasia (FCD). The main goal of this work is to investigate the frequency of a single nucelotide variant (SNV) identified in CTBP2, rs76555439, in a cohort of patients with FCD and compare it with healthy control individuals.