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case-report | 30-November-2019

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

), (Figure 2) and the second one, c.6770C> G, p. (Ser-2257Trp) in the RELN gene, in heterozygous state (NM_005045.3) (Figure 3). Figure 2. Molecular testing with Next Generation Sequencing technique revealed mutations at KCNB1 gene. Figure 3. Molecular testing with Next Generation Sequencing technique revealed mutations a tRELN gene. Nucleotide change c.1234A> G to KCNB1 gene leads to replacement of the amino acid isoleucine by valine at 412 position of amino acid chain and the c.6770C> G change in

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

Journal of Epileptology, Volume 28 , 57–61

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