A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy

Seizure. 2013 May;22(4):315-7. doi: 10.1016/j.seizure.2012.12.014. Epub 2013 Jan 11.

Authors

Dimitrios Chatzistefanidis¹, Katerina Giaka, Ioannis Georgiou, Athanassios P Kyritsis, Sofia Markoula

Affiliation

¹ Department of Neurology, Medical School, University of Ioannina, Ioannina, Greece. dimihat@otenet.gr

PMID: 23313408
DOI: 10.1016/j.seizure.2012.12.014

No abstract available

Publication types

Case Reports

MeSH terms

Codon, Nonsense / genetics*
Epilepsies, Myoclonic / diagnosis
Epilepsies, Myoclonic / genetics
Female
Greece
Humans
Lafora Disease / diagnosis*
Lafora Disease / genetics*
Protein Tyrosine Phosphatases, Non-Receptor / genetics*
Young Adult

Substances

Codon, Nonsense
Protein Tyrosine Phosphatases, Non-Receptor
EPM2A protein, human