Refractory absence epilepsy associated with GLUT-1 deficiency syndrome

被引：11

作者：

Byrne, Susan

Kearns, Jacinta

Carolan, Ray

Mc Menamin, Joseph

Klepper, Joerg ^{[2
]}

Webb, David ^{[1
]}

机构：

[1] Our Ladys Hosp Sick Children, Dept Neurosci, Dublin 12, Ireland

[2] Childrens Hosp, Aschaffenburg, Germany

来源：

EPILEPSIA | 2011年 / 52卷 / 05期

关键词：

Generalized epilepsy; Absence seizure; GLUT-1 deficiency syndrome; Pediatrics; EEG; GLUCOSE-TRANSPORTER GLUT1; MUTATIONS; ONSET;

D O I：

10.1111/j.1528-1167.2011.02989.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.

引用

页码：1021 / 1024

页数：4

共 16 条

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