SLC2A1 and Its Related Epileptic Phenotypes

Francesca Patanè; Elisa Pasquetti; Federica Sullo; Monica Tosto; Catia Romano; Stefania Salafia; Raffaele Falsaperla

doi:10.1055/s-0041-1728668

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology
DOI: 10.1055/s-0041-1728668

Review Article

SLC2A1 and Its Related Epileptic Phenotypes

Francesca Patanè

¹Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Elisa Pasquetti

¹Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Federica Sullo

¹Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Monica Tosto

¹Pediatric Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Catia Romano

²Italian Blind Union, Catania Section, Italy

,

Stefania Salafia

³Unit of Pediatrics, Lentini Hospital, Lentini, Italy

,

Raffaele Falsaperla

⁴Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

⁵Unit of Neonatal Intensive Care and Neonatology, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

› Institutsangaben

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 in the blood–brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, to epilepsy, movement disorders, acquired microcephaly and atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports the diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet is the first-line treatment and should be established at the initial stages of disease.

Keywords

SLC2A1 - epilepsy - microcephaly - movement disorders - ketogenic diet

Volltext

Referenzen

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