Title
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency "Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Subject
Human medicine
Source (journal)
Epileptic disorders
Volume/pages
13(2011) :3 , p. 300-303
ISSN
1294-9361
ISI
000296567000010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
We report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy. Eventually, he had a poor outcome with refractory generalised tonic-clonic, myoclonic and absence seizures, ataxia, significant mental impairment and slowing of head growth. He responded poorly to ketogenic diet. This case extends the phenotype of GLUT1-related syndromes and also sheds light on the genetic basis of myoclonic epilepsies of infancy suggesting that variable outcome may depend on genetic factors.
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