Article
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Journal of inherited metabolic disease - 1 Jan 2013
Valayannopoulos Vassili, Bakouh Naziha, Mazzuca Michel, Nonnenmacher Luc, Hubert Laurence, Makaci Fatna-Léa, Chabli Allel, Salomons Gajja S, Mellot-Draznieks Caroline, Brulé Emilie, de Lonlay Pascale, Toulhoat Hervé, Munnich Arnold, Planelles Gabrielle, de Keyzer Yves
Abstract excerpt
Intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (Cr) transporter deficiency syndrome resulting from mutations in the SLC6A8 gene. So far characterization of pathogenic mutations of SLC6A8 has been limited to Cr uptake. The aim of our study was to characterize the electrogenic and pharmacological properties of non truncating SLC6A8 mutations identified in patients presenting...
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