The phenotype of
Publication/Presentation Date
9-18-2018
Abstract
OBJECTIVE: To delineate the electroclinical features of
METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.
RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (< 20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations.
CONCLUSIONS:
Volume
91
Issue
12
First Page
1112
Last Page
1112
ISSN
1526-632X
Published In/Presented At
Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G., … Møller, R. S. (2018). The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology, 91(12), e1112–e1124. https://doi.org/10.1212/WNL.0000000000006199
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
30171078
Department(s)
Department of Pediatrics
Document Type
Article