Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.
BACKGROUND
We assessed the clinical utility of routine electroencephalography (EEG) in the prediction of epilepsy onset in asymptomatic infants with tuberous sclerosis complex.


METHODS
This multicenter prospective observational study recruited infants younger than 7 months, seizure-free and on no antiepileptic drugs at enrollment, who all underwent serial physical examinations and video EEGs throughout the study. Parental education on seizure recognition was completed at the time of initial enrollment. Once seizure onset occurred, standard of care was applied, and subjects were followed up until 24 months.


RESULTS
Forty patients were enrolled, 28 older than 12 months with completed EEG evaluation at the time of this interim analysis. Of those, 19 (67.8%) developed seizures. Epileptic spasms occurred in 10 (52.6%), focal seizures in five (26.3%), generalized tonic-clonic seizure in one (5.3%), and a combination of epileptic spasms and focal seizures in three (15.7%). Fourteen infants (73.6%) had the first emergence of epileptiform abnormalities on EEG at an average age 4.2 months, preceding seizure onset by a median of 1.9 months. Hypsarrhythmia or modified hypsarrhythmia was not found in any infant before onset of epileptic spasms. All children with epileptiform discharges subsequently developed epilepsy (100% positive predictive value), and the negative predictive value for not developing epilepsy after a normal EEG was 64%.


CONCLUSIONS
Serial routine EEGs in infants with tuberous sclerosis complex is a feasible strategy to identify individuals at high risk for epilepsy. The most frequent clinical presentation was epileptic spasms followed by focal seizures, and then a combination of both seizure types.
Division of Pediatric Neurology, Mattel Children's Hospital at UCLA, Los Angeles, California.
Joyce Y
JY
Wu
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Jurriaan M
JM
Peters
Department of Neurology, University of Alabama Birmingham, Birmingham, Alabama.
Monisha
M
Goyal
Cincinnati Children's Hospital, Cincinnati, Ohio.
Darcy
D
Krueger
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Mustafa
M
Sahin
University of Texas Houston, Houston, Texas.
Hope
H
Northrup
University of Texas Houston, Houston, Texas.
Kit Sing
KS
Au
Department of Neurology, University of Alabama Birmingham, Birmingham, Alabama.
Gary
G
Cutter
Department of Neurology, University of Alabama Birmingham, Birmingham, Alabama. Electronic address: ebebin@uab.edu.
E Martina
EM
Bebin
D000293:Adolescent; D001921:Brain / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000175:diagnosis* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D011379:Prognosis; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000503:physiopathology*; D014741:Video Recording; D055815:Young Adult
EEG; epileptic spasms; partial seizures; video EEG use in epilepsy