Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

Abstract Background GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by either heterozygous or homozygous mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter type 1 (GLUT1) protein, which is the primary glucose transporter at t...

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Bibliographic Details
Main Authors: Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Medical Genomics
Subjects:
Whole exome sequencing
SLC2A1
GLUT1 Deficiency Syndrome 1
Ketogenic diet
Hemangioma
Online Access:https://doi.org/10.1186/s12920-021-01045-3

Internet

https://doi.org/10.1186/s12920-021-01045-3

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