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Article

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

13 May 2016

Abstract excerpt

AIM: 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. METHOD: Based on the initial observation of an index case with CDG and migrating partial seizures, we evaluated 16 additional children with CDG and analysed...

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PMID: 27172925
DOI: 10.1111/dmcn.13141

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