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, Renzo; Cdg, Group; Parrini, E.; Ashikov, A.; Bordugo, A.; Cantalupo, G.; Casara, G.; Bernardina, B. D.; Falchi, M.; Ferri, L.; Martinelli, D.; Morrone, Amelia; Race, V.; Rosati, A.; Souche, E.. - 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.
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