Freitas, JoelPinto, EugéniaDuarte, A.J.Amaral, OlgaChaves, JoaoLopes-Lima, J.2012-03-142012-03-142011-08Epilepsia. 2011;52(Suppl. 6):970013-9580doi: 10.1111/j.1528-1167.2011.03207.xhttp://hdl.handle.net/10400.18/761AJD e DR: bolseiros FCT.P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.engDoenças GenéticasGenetic DiseaseEpilepsyconference object