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

scholarly journals A novel mutation in slc2a1 gene causing glut-1 deficiency syndrome in a young adult patient

2019 ◽  
Vol 61 (6) ◽  
pp. 946
Author(s):  
Ala Üstyol ◽  
Satoru Takahashi ◽  
Halil Uğur Hatipoğlu ◽  
Mehmet Ali Duman ◽  
Murat Elevli ◽  
...  
Keyword(s):  
Young Adult ◽  
Adult Patient ◽  
Novel Mutation ◽  
Deficiency Syndrome ◽  
Glut 1 ◽  
Young Adult Patient ◽  
Slc2a1 Gene

scholarly journals SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

2020 ◽  
Vol 83 (3) ◽  
pp. 177-183
Author(s):  
Cemre ÖRNEK ERGÜZELOĞLU ◽  
Bülent KARA ◽  
İlker KARACAN ◽  
Özkan ÖZDEMİR ◽  
Yeşim KESİM ◽  
...  
Keyword(s):  
Copy Number ◽  
Deficiency Syndrome ◽  
Copy Number Variations ◽  
Glut 1 ◽  
Slc2a1 Gene

Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene

2011 ◽  
Vol 21 (2) ◽  
pp. 200-202 ◽  
Author(s):  
Sarenur Gökben ◽  
Sanem Yılmaz ◽  
Joerg Klepper ◽  
Gül Serdaroğlu ◽  
Hasan Tekgül
Keyword(s):  
Hot Spot ◽  
Deficiency Syndrome ◽  
Slc2a1 Gene ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
Video Eeg

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

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 SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

2011 ◽  
Vol 56 (12) ◽  
pp. 846-851 ◽  
Author(s):  
Natsuko Hashimoto ◽  
Kuriko Kagitani-Shimono ◽  
Norio Sakai ◽  
Takanobu Otomo ◽  
Koji Tominaga ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Japanese Patients ◽  
Deficiency Syndrome ◽  
Gene Analysis ◽  
Glucose Transporter 1 ◽  
Slc2a1 Gene
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