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

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 repor...

Descripción completa

Detalles Bibliográficos
Autores principales: Çolak, Rüya, Alkan Özdemir, Senem, Yangın Ergon, Ezgi, Kağnıcı, Mehtap, Çalkavur, Şebnem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785666/
https://www.ncbi.nlm.nih.gov/pubmed/28443597
http://dx.doi.org/10.4274/balkanmedj.2016.1376
_version_ 1783295645838213120
author Çolak, Rüya
Alkan Özdemir, Senem
Yangın Ergon, Ezgi
Kağnıcı, Mehtap
Çalkavur, Şebnem
author_facet Çolak, Rüya
Alkan Özdemir, Senem
Yangın Ergon, Ezgi
Kağnıcı, Mehtap
Çalkavur, Şebnem
author_sort Çolak, Rüya
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5785666
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Galenos Publishing
record_format MEDLINE/PubMed
spelling pubmed-57856662018-02-01 A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C Çolak, Rüya Alkan Özdemir, Senem Yangın Ergon, Ezgi Kağnıcı, Mehtap Çalkavur, Şebnem Balkan Med J Case Report 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. Galenos Publishing 2017-12 2017-12-01 /pmc/articles/PMC5785666/ /pubmed/28443597 http://dx.doi.org/10.4274/balkanmedj.2016.1376 Text en © Copyright 2017, Trakya University Faculty of Medicine http://creativecommons.org/licenses/by/2.5/ Balkan Medical Journal
spellingShingle Case Report
Çolak, Rüya
Alkan Özdemir, Senem
Yangın Ergon, Ezgi
Kağnıcı, Mehtap
Çalkavur, Şebnem
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title_full A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title_fullStr A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title_full_unstemmed A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title_short A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
title_sort different slc2a1 gene mutation in glut 1 deficiency syndrome: c.734a>c
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785666/
https://www.ncbi.nlm.nih.gov/pubmed/28443597
http://dx.doi.org/10.4274/balkanmedj.2016.1376
work_keys_str_mv AT colakruya adifferentslc2a1genemutationinglut1deficiencysyndromec734ac
AT alkanozdemirsenem adifferentslc2a1genemutationinglut1deficiencysyndromec734ac
AT yangınergonezgi adifferentslc2a1genemutationinglut1deficiencysyndromec734ac
AT kagnıcımehtap adifferentslc2a1genemutationinglut1deficiencysyndromec734ac
AT calkavursebnem adifferentslc2a1genemutationinglut1deficiencysyndromec734ac
AT colakruya differentslc2a1genemutationinglut1deficiencysyndromec734ac
AT alkanozdemirsenem differentslc2a1genemutationinglut1deficiencysyndromec734ac
AT yangınergonezgi differentslc2a1genemutationinglut1deficiencysyndromec734ac
AT kagnıcımehtap differentslc2a1genemutationinglut1deficiencysyndromec734ac
AT calkavursebnem differentslc2a1genemutationinglut1deficiencysyndromec734ac

Ejemplares similares