Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygousCSTBpoint and indel mutations

Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

(2011) Eugénia Pinto et al.   EPILEPSY RESEARCH

Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene

(2011) Päivi Koskenkorva et al.   Neurodegenerative Diseases

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus

(2010) P. Genton et al.   ACTA NEUROLOGICA SCANDINAVICA

PROGRESSIVE MYOCLONUS EPILEPSY

(2010) M. Koskiniemi et al.   ACTA NEUROLOGICA SCANDINAVICA

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

(2010) Reijo Norio et al.   CLINICAL GENETICS

Unverricht-Lundborg disease (EPM1)

(2010) Pierre Genton   EPILEPSIA

Neuropsychological findings in patients with Unverricht–Lundborg disease

(2009) Edoardo Ferlazzo et al.   EPILEPSY & BEHAVIOR

The neuropsychological pattern of Unverricht–Lundborg disease

(2009) Anna R. Giovagnoli et al.   EPILEPSY RESEARCH

Clinical picture of EPM1-Unverricht-Lundborg disease

(2008) Reetta Kälviäinen et al.   EPILEPSIA

Coexistence of Unverricht-Lundborg disease and congenital deafness: Molecular resolution of a complex comorbidity

(2008) Miljana Kecmanović et al.   EPILEPSIA

Molecular background of EPM1—Unverricht–Lundborg disease

(2007) Tarja Joensuu et al.   EPILEPSIA