Article
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2015
Lebon Sébastien, Suarez Philippe, Alija Semsa, Korff Christian M, Fluss Joël, Mercati Danielle, Datta Alexandre N, Poloni Claudia, Marcoz Jean-Pierre, Campos-Xavier Ana Belinda, Bonafé Luisa, Roulet-Perez Eliane
Abstract excerpt
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....
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