SLC2A1 and Its Related Epileptic Phenotypes

Authors

Francesca PATANÈ, Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Elisa PASQUETTI, Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Federica SULLO, Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Monica TOSTO, Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Catia ROMANO, Italian Blind Union, Catania section, Italy
Stefania SALAFIA, Unit of Pediatrics, Lentini Hospital, Lentini, ItalyFollow
Raffaele FALSAPERLA, Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy; Unit of Neonatal Intensive Care and Neonatology, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by heterozygous, mostly de novo, mutations in SLC2A1 gene encoding the glucose transporter GLUT1, the most relevant energy transporter of the brain through the blood-brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, epilepsy, movement disorders and acquired microcephaly to atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet (KD) is the first line treatment and should be established at the initial stages of disease.

Recommended Citation

PATANÈ, Francesca; PASQUETTI, Elisa; SULLO, Federica; TOSTO, Monica; ROMANO, Catia; SALAFIA, Stefania; and FALSAPERLA, Raffaele () "SLC2A1 and Its Related Epileptic Phenotypes," Journal of Pediatric Neurology: Vol. 23: Iss. 1, Article 3.
Available at: https://jpn.researchcommons.org/journal/vol23/iss1/3