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...

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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
Descripción
Sumario: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.

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