1. Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family 
Zain Aslam, Eungi Lee, Mazhar Badshah, Muhammad Naeem, Changsoo Kang 
Seizure - European Journal of Epilepsy 
Volume 51, Pages (October 2017)
DOI: /j.seizure
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2. Fig. 1
Pedigree structure and autosomal recessive segregation of EPM2A sequence variant c.262 T>G (p.F88V) in a Pakistani family affected with Lafora disease phenotype. The filled symbols indicate the affected individuals. Whole Exome Sequencing was performed for the two individuals marked with asterisk.
Seizure - European Journal of Epilepsy  , DOI: ( /j.seizure )
Copyright © 2017 British Epilepsy Association Terms and Conditions

3. Fig. 2
Sequence analysis of the EPM2A gene (c.262 T>G). Sanger sequencing results of the normal (IV-8, VI-8 with normal T/T allele, V-1, -3, -4 and VI-1 with one mutated allele T/G) and affected (VI-6 with two mutated alleles G/G) individuals.
Seizure - European Journal of Epilepsy  , DOI: ( /j.seizure )
Copyright © 2017 British Epilepsy Association Terms and Conditions