EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Disease: Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.110 GeneticVariation disease BEFREE Here we related mutations in EPM2A with phenotypes of 22 patients (14 families) and identified two subsyndromes: (i) classical LD with adolescent-onset stimulus-sensitive grand mal, absence and myoclonic seizures followed by dementia and neurologic deterioration, and associated mainly with mutations in exon 4 (P = 0.0007); (ii) atypical LD with childhood-onset dyslexia and learning disorder followed by epilepsy and neurologic deterioration, and associated mainly with mutations in exon 1 (P = 0.0015). 12019207 2002
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease HPO