Article
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.
Journal of child neurology - 1 Jul 2013
De Grandis Elisa, Stagnaro Michela, Biancheri Roberta, Giannotta Melania, Gobbi Giuseppe, Traverso Monica, Veneselli Edvige, Zara Federico
Abstract excerpt
Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification...
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