Mesial temporal lobe epilepsy associated with KCNT1 mutation N. Hansen, G. Widman, E. Hattingen, C.E. Elger, W.S. Kunz  Seizure - European Journal of Epilepsy  Volume 45, Pages 181-183 (February 2017) DOI: 10.1016/j.seizure.2016.12.018 Copyright © 2016 British Epilepsy Association Terms and Conditions

Fig. 1 MRI in the 25-year-old female (A–C). The recent MRI reveals subtle swelling of the right amygdala on axial FLAIR (A). In addition, signs of an initial hippocampal sclerosis with signal increase and blurred inner structures of the anterior part of the hippocampus are seen on coronar T2-weighted (B) and FLAIR (C) images. MRI of the 30-year-old male (D–F). On axial FLAIR image (D) the left amygdala shows signal increase and swelling. The coronar T2-weighted image (E) and FLAIR (F) reveal swelling, signal increase and blurred internal structures of the left hippocampus. The right hippocampus also shows subtle signal inhomogeneity, best seen on T2-weighted sequence (E). Seizure - European Journal of Epilepsy 2017 45, 181-183DOI: (10.1016/j.seizure.2016.12.018) Copyright © 2016 British Epilepsy Association Terms and Conditions

Fig. 2 (A) Sequencing chromatogram of a part of exon 17 of the KCNT1 gene in the index patient showing the heterozygous c.1694G>A mutation (indicated by the colored box and the red arrow). Sanger sequencing confirmed the presence of the mutation also in his sister and the mother. (B) Family pedigree. The index patient is indicated by the black arrow in the pedigree. TLE=temporal lobe epilepsy. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.) Seizure - European Journal of Epilepsy 2017 45, 181-183DOI: (10.1016/j.seizure.2016.12.018) Copyright © 2016 British Epilepsy Association Terms and Conditions