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Mild L afora disease: Clinical, neurophysiologic, and genetic findings
Author(s) -
Ferlazzo Edoardo,
Canafoglia Laura,
Michelucci Roberto,
Gambardella Antonio,
Gennaro Elena,
Pasini Elena,
Riguzzi Patrizia,
Plasmati Rosaria,
Volpi Lilia,
Labate Angelo,
Gasparini Sara,
Villani Flavio,
Casazza Marina,
Viri Maurizio,
Zara Federico,
Minassian Berge A.,
Turnbull Julie,
Serratosa Jose M.,
GuerreroLópez Rosa,
Franceschetti Silvana,
Aguglia Umberto
Publication year - 2014
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12806
Subject(s) - medicine , age of onset , epilepsy , electroencephalography , disease , pediatrics , psychiatry
Summary We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease ( LD ) to identify distinguishing features of those with a slowly progressive course. Twenty‐three patients with LD (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. NHLRC 1 mutations were detected in 18 patients; EPM 2A mutations were identified in 5. Patients who maintained >10 years gait autonomy were labeled as “mild” and were compared with the remaining LD patients with a typical course. Six of 23 patients were mild and presented significantly delay in the age at onset, lower neurologic disability score at 4 years after the onset, less severe seizure phenotype, lower probability of showing both photoparoxysmal response on electroencephalography ( EEG ) and giant somatosensory evoked potentials, as compared to patients with typical LD . However, in both mild and typical LD patients, EEG showed disorganization of background activity and frequent epileptiform abnormalities. Mild LD patients had NHLRC 1 mutations and five of six carried homozygous or compound heterozygous D146N mutation. This mutation was found in none of the patients with typical LD . The occurrence of specific NHLRC 1 mutations in patients with mild LD should be taken into account in clinical practice for appropriate management and counseling.