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case-report | 30-November-2019

Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

nucleotide sequencing were undertaken using the Blueprint Genetics (BpG) Beyond Pediatric Epilepsy Panel Plus and the NGS (Illumina NextSeq), respectively, examining 283 disease-causing genes. The Burrows-Wheeler Aligner (BWA-MEM) software was used for the data analysis [reference genome UCSC hg19 and reference database Human Gene Mutation Database (HGMD v.2017.1)]. Two nucleotide changes were detected. The first one c.1234A> G, p. (Ile412Val) in the KCNB1 gene, in heterozygous state (NM_004975.3

Adamantios Katerelos, Nikolaos Zagkos, Dimitra Alexopoulou, Stella Mouskou, Anastasia Korona, Emmanouil Manolakos

Journal of Epileptology, Volume 28 , 57–61

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