Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work-up.
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy / Barba, C., Darra, F., Cusmai, R., Procopio, E., Dionisi Vici, C., Keldermans, L., Vuillaumier Barrot, S., Lefeber, D.J., Guerrini, R., Cdg, G., Parrini, E., Ashikov, A., Bordugo, A., Cantalupo, G., Casara, G., Bernardina, B.D., Falchi, M., Ferri, L., Martinelli, D., Morrone, A., et al.. - In: DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY. - ISSN 1469-8749. - STAMPA. - 58:(2016), pp. 1085-1091. [10.1111/dmcn.13141]
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
Barba C.;GUERRINI, RENZO;MORRONE, AMELIA;
2016
Abstract
Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work-up.| File | Dimensione | Formato | |
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