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

ÖZDEMİR, Senem ALKAN; COLAK, RUYA; Kagnici, Mehtap; ERGON, Ezgi Yangın; Calkavur, Sebnem

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

Rüya ÇOLAK, (Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey)

Senem Alkan ÖZDEMİR, (Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey)

Ezgi Yangın ERGON, (Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey)

Mehtap KAĞNICI, (Clinic of Pediatric Metabolism, Dr. Behçet Uz Children's Hospital, İzmir, Turkey)

Şebnem ÇALKAVUR (Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey)

Balkan Medical Journal

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Yıl: 2017 Cilt: 34 Sayı: 6 Sayfa Aralığı: 580 - 583 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

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

Öz:

Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. Case Report: Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest. Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome

Anahtar Kelime:

Konular: Cerrahi

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	COLAK R, ÖZDEMİR S, ERGON E, Kagnici M, Calkavur S (2017). A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. , 580 - 583.
Chicago	COLAK RUYA,ÖZDEMİR Senem ALKAN,ERGON Ezgi Yangın,Kagnici Mehtap,Calkavur Sebnem A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. (2017): 580 - 583.
MLA	COLAK RUYA,ÖZDEMİR Senem ALKAN,ERGON Ezgi Yangın,Kagnici Mehtap,Calkavur Sebnem A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. , 2017, ss.580 - 583.
AMA	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. . 2017; 580 - 583.
Vancouver	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. . 2017; 580 - 583.
IEEE	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S "A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C." , ss.580 - 583, 2017.
ISNAD	COLAK, RUYA vd. "A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C". (2017), 580-583.

APA	COLAK R, ÖZDEMİR S, ERGON E, Kagnici M, Calkavur S (2017). A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal, 34(6), 580 - 583.
Chicago	COLAK RUYA,ÖZDEMİR Senem ALKAN,ERGON Ezgi Yangın,Kagnici Mehtap,Calkavur Sebnem A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal 34, no.6 (2017): 580 - 583.
MLA	COLAK RUYA,ÖZDEMİR Senem ALKAN,ERGON Ezgi Yangın,Kagnici Mehtap,Calkavur Sebnem A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal, vol.34, no.6, 2017, ss.580 - 583.
AMA	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal. 2017; 34(6): 580 - 583.
Vancouver	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal. 2017; 34(6): 580 - 583.
IEEE	COLAK R,ÖZDEMİR S,ERGON E,Kagnici M,Calkavur S "A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C." Balkan Medical Journal, 34, ss.580 - 583, 2017.
ISNAD	COLAK, RUYA vd. "A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C". Balkan Medical Journal 34/6 (2017), 580-583.