Clinical and genetic studies in patients with Lafora disease from Pakistan

Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N. Ahmad, Abdul Nasir, Christian A. Hübner, Muhammad Jawad Hassan

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG). Bi-directional sequencing in family A was performed for EPM2A and NHLRC1 genes but no mutation was found. In family B, Illumina TruSight One Sequencing Panel covering 4813 OMIM genes was carried out and we identified a novel homozygous mutation c.95G > T; p.32Trp > Leu of EPM2A gene which was found co-segregated in this family through Sanger sequencing. Structural analysis of this mutation, through different in silico approaches, predicted loss of stability and conformation in Laforin protein.

Original languageEnglish
Pages (from-to)263-267
Number of pages5
JournalJournal of the Neurological Sciences
Publication statusPublished - 15 Feb 2017
Externally publishedYes


  • EPM2A
  • Lafora disease
  • Mutation
  • Pakistani families


Dive into the research topics of 'Clinical and genetic studies in patients with Lafora disease from Pakistan'. Together they form a unique fingerprint.

Cite this