When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Détails

ID Serval
serval:BIB_4C3C4D37E9CB
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
Périodique
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society
Auteur⸱e⸱s
Lebon S., Suarez P., Alija S., Korff C.M., Fluss J., Mercati D., Datta A.N., Poloni C., Marcoz J.P., Campos-Xavier A.B., Bonafé L., Roulet-Perez E.
ISSN
1532-2130 (Electronic)
ISSN-L
1090-3798
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
19
Numéro
2
Pages
170-175
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
UNLABELLED: GLUT1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsies in childhood. As it is a treatable condition, it is crucial to determine which patients should be investigated.
METHODS: We analyzed SLC2A1 for mutations in a group of 93 unrelated children with generalized epilepsies. Fasting lumbar puncture was performed following the identification of a mutation. We compared our results with a systematic review of 7 publications of series of patients with generalized epilepsies screened for SLC2A1 mutations.
RESULTS: We found 2/93 (2.1%) patients with a SLC2A1 mutation. One, carrying a novel de novo deletion had epilepsy with myoclonic-atonic seizures (MAE), mild slowing of head growth, choreiform movements and developmental delay. The other, with a paternally inherited missense mutation, had childhood absence epilepsy with atypical EEG features and paroxysmal exercise-induced dyskinesia (PED) initially misdiagnosed as myoclonic seizures. Out of a total of 1110 screened patients with generalized epilepsies from 7 studies, 2.4% (29/1110) had GLUT1D. This rate was higher (5.6%) among 303 patients with early onset absence epilepsy (EOAE) from 4 studies. About 50% of GLUT1D patients had abnormal movements and 41% a family history of seizures, abnormal movements or both.
CONCLUSION: GLUT1D is most likely to be found in MAE and in EOAE. The probability of finding GLUT1D in the classical idiopathic generalized epilepsies is very low. Pointers to GLUT1D include an increase in seizures before meals, cognitive impairment, or PED which can easily be overlooked.
Mots-clé
Child, Epilepsies, Myoclonic/genetics, Epilepsy, Absence/genetics, Epilepsy, Generalized/genetics, Female, Glucose Transporter Type 1/deficiency, Glucose Transporter Type 1/genetics, Humans, Male, Mutation, Sequence Deletion
Pubmed
Web of science
Création de la notice
10/04/2015 19:17
Dernière modification de la notice
20/08/2019 15:00
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