Download presentation
Presentation is loading. Please wait.
Published byΚύμα Βιτάλης Modified over 6 years ago
1
Milder phenotype with SCN1A truncation mutation other than SMEI
Mei-Juan Yu, Yi-Wu Shi, Mei-Mei Gao, Wei-Yi Deng, Xiao-Rong Liu, Li Chen, Yue-Sheng Long, Yong-Hong Yi, Wei-Ping Liao Seizure - European Journal of Epilepsy Volume 19, Issue 7, Pages (September 2010) DOI: /j.seizure Copyright © 2010 British Epilepsy Association Terms and Conditions
2
Fig. 1 Pedigree, DHPLC and sequencing analysis of patient 1. (A) Pedigree. (B) DHPLC chromatograms of all family members. Arrow showed the mutation peak. (C) Partial nucleotide sequences of exon 11 of SCN1A, showing the heterozygous A>C substitution that corresponds to the truncation mutation S662X. Seizure - European Journal of Epilepsy , DOI: ( /j.seizure ) Copyright © 2010 British Epilepsy Association Terms and Conditions
3
Fig. 2 Pedigree, DHPLC and sequencing analysis of patient 2. (A) Pedigree. (B) DHPLC chromatograms of all family members. Arrow showed the mutation peak. (C) Partial nucleotide sequences of exon 3 of SCN1A, showing the heterozygous deletion c.[AT] del that corresponds to the truncation mutation M145fsX148. Seizure - European Journal of Epilepsy , DOI: ( /j.seizure ) Copyright © 2010 British Epilepsy Association Terms and Conditions
Similar presentations
© 2024 SlidePlayer.com. Inc.
All rights reserved.