Publication
Title
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency
Author
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.
Language
English
Source (journal)
Epileptic disorders. - -
Publication
2011
ISSN
1294-9361
Volume/pages
13:3(2011), p. 300-303
ISI
000296567000010
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 18.01.2012
Last edited 22.11.2017
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