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 (Publishers 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 05.03.2017
To cite this reference