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 rep...

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Detalles Bibliográficos

Autores principales:	Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Trakya University 2017-12-01
Colección:	Balkan Medical Journal
Materias:	Glut 1 deficiency syndrome neonatal seizures mutation
Acceso en línea:	http://balkanmedicaljournal.org/text.php?lang=en&id=1903
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