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  • 标题:Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
  • 本地全文:下载
  • 作者:Lee, Hyun Hee ; Hur, Yun Jung
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2016
  • 卷号:59
  • 期号:Suppl 1
  • 页码:S29-S31
  • DOI:10.3345/kjp.2016.59.11.S29
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene ( SLC2A1 ) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

  • 关键词:GLUT-1 deficiency syndrome; Infantile spasm; SLC2A1 protein
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