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Epileptic Disorders

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“Benign” myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency Volume 13, numéro 3, Septembre 2011

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Auteurs
Department of Pediatric Neurology, ULB-Erasme Hospital, Brussels, Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Laboratory of Neurogenetics, Institute Born-Bunge, Antwerp, University of Antwerp, Antwerp, Department of Medical Genetics, ULB-Erasme Hospital, Brussels, Division of Neurology, University Hospital Antwerp, Antwerp, Belgium

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. [Published with video sequences]