Published in
Wiley, Developmental Medicine & Child Neurology, 10(58), p. 1085-1091, 2016
DOI: 10.1111/dmcn.13141
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Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
Journal article published in 2016 by
Carmen Barba,
Francesca Darra,
Raffaella Cusmai 
,
Elena Procopio,
Carlo Dionisi Vici,
Liesbeth Keldermans,
E. Parrini,
Sandrine Vuillaumier-Barrot,
A. Ashikov,
A. Bordugo,
Dirk J. Lefeber,
G. Cantalupo,
G. Casara,
Renzo Guerrini,
B. D. Bernardina
and other authors.
,
Elena Procopio,
Carlo Dionisi Vici,
Liesbeth Keldermans,
E. Parrini,
Sandrine Vuillaumier-Barrot,
A. Ashikov,
A. Bordugo,
Dirk J. Lefeber,
G. Cantalupo,
G. Casara,
Renzo Guerrini,
B. D. Bernardina
and other authors.
This paper is made freely available by the publisher.
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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.