Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience

2012 ◽  
Vol 47 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Yanyan Liu ◽  
Xinhua Bao ◽  
Dong Wang ◽  
Na Fu ◽  
Xiaoying Zhang ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Glut 1 ◽  
Allelic Variations

scholarly journals A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

2017 ◽  
Vol 34 (6) ◽  
pp. 580-583 ◽  
Author(s):  
Rüya Çolak ◽  
Senem Alkan Özdemir ◽  
Ezgi Yangın Ergon ◽  
Mehtap Kağnıcı ◽  
Şebnem Çalkavur
Keyword(s):  
Gene Mutation ◽  
Deficiency Syndrome ◽  
Glut 1 ◽  
Slc2a1 Gene

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

1998 ◽  
Vol 18 (2) ◽  
pp. 188-191 ◽  
Author(s):  
Glen Seidner ◽  
Marcela Garcia Alvarez ◽  
Jih-I Yeh ◽  
Kevin R. O'Driscoll ◽  
Jörg Klepper ◽  
...  
Keyword(s):  
Blood Brain Barrier ◽  
Deficiency Syndrome ◽  
Brain Barrier ◽  
Glut 1 ◽  
Blood Brain ◽  
Hexose Carrier

Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome

2016 ◽  
Vol 31 (13) ◽  
pp. 1483-1488 ◽  
Author(s):  
Michelle Blumenschine ◽  
Jacqueline Montes ◽  
Ashwini K. Rao ◽  
Kristin Engelstad ◽  
Darryl C. De Vivo
Keyword(s):  
Deficiency Syndrome ◽  
Gait Disturbance ◽  
Glut 1

Refractory absence epilepsy associated with GLUT-1 deficiency syndrome

Epilepsia ◽  
2011 ◽  
Vol 52 (5) ◽  
pp. 1021-1024 ◽  
Author(s):  
Susan Byrne ◽  
Jacinta Kearns ◽  
Ray Carolan ◽  
Joseph Mc Menamin ◽  
Joerg Klepper ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Absence Epilepsy ◽  
Glut 1
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