Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients.
The aim of the study was to evaluate interictal electroencephalogram features in 22 patients with Dravet syndrome from the onset of the disease through the next 5 years. Electroencephalogram was abnormal in 5 patients (22.7%) at onset, and in 17 (77.3%) at the end of the study. Epileptiform abnormalities (focal, multifocal, or generalized) were seen in 6 patients at the onset and in 14 (27% vs 64%) at the end of the study. Photoparoxysmal response was present in 41% of patients at the end of follow-up. No statistical differences were found between mutated and nonmutated groups regarding evolution of background activity, interictal abnormalities, and presence of photoparoxysmal response. Electroencephalogram findings seemed to be age dependent, variable among different patients, and not influenced by the presence of sodium channel, voltage-gated, type I, alpha subunit (SCN1A) mutation. The lack of specific epileptiform abnormalities contributes to the difficulty of patients' management in Dravet syndrome.
Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. nicola.specchio@opbg.net
Nicola
N
Specchio
Martina
M
Balestri
Marina
M
Trivisano
Natia
N
Japaridze
Pasquale
P
Striano
Antonio
A
Carotenuto
Simona
S
Cappelletti
Luigi M
LM
Specchio
Lucia
L
Fusco
Federico
F
Vigevano
D000293:Adolescent; D017668:Age of Onset; D058256:Brain Waves / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D012189:Retrospective Studies; D015222:Sodium Channels / Q000235:genetics; D013997:Time Factors
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels