title: "Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency.
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. [Published with video sequences].
authors.affiliation: Department of Pediatric Neurology, ULB-Erasme Hospital, Brussels, Belgium. ngaspard@ulb.ac.be
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gaspard
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Catheline
authors.initials: C
authors.lastname: Vilain
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Bogaert
mesh_terms: D004247:DNA / Q000235:genetics; D055423:Diet, Ketogenic; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000209:etiology* / Q000235:genetics; D020233:Gait Disorders, Neurologic / Q000235:genetics; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D020190:Myoclonic Epilepsy, Juvenile / Q000209:etiology* / Q000235:genetics; D012640:Seizures / Q000209:etiology / Q000235:genetics
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D004247:DNA