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.
2016
58
1085
1091
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.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1052634
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