We report clinical, neurophysiologic, and genetic features of an Italian series of @entity1 with @entity21244 ( @entity21244 ) to identify distinguishing features of those with a slowly progressive course. Twenty-three @entity1 with @entity21244 (17 female; 6 male) were recruited. Mean age (   SD) at the disease onset was 14.5      3.9  years and mean follow-up duration was 13.2      8.0  years. @entity20679 mutations were detected in 18 @entity1 ; @entity2083 mutations were identified in 5. @entity1 who maintained >10  years gait autonomy were labeled as "mild" and were compared with the remaining @entity21244 @entity1 with a typical course. Six of 23 @entity1 were mild and presented significantly delay in the age at onset, lower @entity16 score at 4  years after the onset, less severe @entity410 phenotype, lower probability of showing both photoparoxysmal response on electroencephalography (EEG) and giant somatosensory evoked potentials, as compared to @entity1 with typical @entity21244 . However, in both mild and typical @entity21244 @entity1 , EEG showed disorganization of background activity and frequent @entity302 . Mild @entity21244 @entity1 had @entity20679 mutations and five of six carried homozygous or compound heterozygous @entity61773 mutation. This mutation was found in none of the @entity1 with typical @entity21244 . The occurrence of specific @entity20679 mutations in @entity1 with mild @entity21244 should be taken into account in clinical practice for appropriate management and counseling.

Mild XXXX : Clinical, neurophysiologic, and genetic findings.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizure'] @entity61773 :: ('p|SUB|D|146|N', 'ProteinMutation') :: ['D146N'] @entity21244 :: ('MESH:D020192', 'Disease') :: ['LD', 'Lafora disease'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurologic disability'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epileptiform abnormalities'] @entity20679 :: ('378884', 'Gene') :: ['NHLRC1'] @entity2083 :: ('7957', 'Gene') :: ['EPM2A']
@entity21244 :: (MESH:D020192,Disease) :: ['Lafora disease']
