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

Chatzistefanidis, Dimitrios

A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy. [electronic resource] - Seizure May 2013 - 315-7 p. digital

Publication Type: Case Reports; Journal Article

1532-2688

10.1016/j.seizure.2012.12.014 doi


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