Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy Lehong Gao, Liping Li,

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Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy Lehong Gao, Liping Li, Jing Ye, Xilin Zhu, Ning Shen, Xiating Zhang, Dequan Wang, Yu Gao, Hua Lin, Yuping Wang, Ying Liu Seizure - European Journal of Epilepsy Volume 41, Pages 81-85 (October 2016) DOI: 10.1016/j.seizure.2016.07.013 Copyright © 2016 British Epilepsy Association Terms and Conditions

Seizure - European Journal of Epilepsy 2016 41, 81-85DOI: (10. 1016/j Seizure - European Journal of Epilepsy 2016 41, 81-85DOI: (10.1016/j.seizure.2016.07.013) Copyright © 2016 British Epilepsy Association Terms and Conditions

Fig. 1 (A) Pedigree of the family with FCMTE. Slashed symbols indicate deceased members. The proband (II:16) is indicated by an arrow. Asterisks (*) indicate that DNA samples underwent whole-exome sequencing. wt, PLA2G6 wild-type allele; m, PLA2G6 A159T mutation. (B) MEG recordings from patient II:16 showing spike dipole source clusters localized in the right frontal lobe, close to the motor area. (C) Schematic of exome data filtering analysis. Known SNP variants and indels were excluded, assuming a low frequency of the pathogenic variants. Heterozygous variants were screened to identify those affecting protein sequences. (D) Sanger sequencing of the PLA2G6 heterozygous mutation p.Ala159Thr. (E) Sequence comparison of six vertebrates showing that the A159T heterozygous missense mutation is located in a highly conserved region of PLA2G6. Seizure - European Journal of Epilepsy 2016 41, 81-85DOI: (10.1016/j.seizure.2016.07.013) Copyright © 2016 British Epilepsy Association Terms and Conditions