Early-Onset Absence Epilepsy Caused by Mutations in the Glucose Transporter GLUT1

被引：198

作者：

Suls, Arvid

Mullen, Saul A. ^{[1
]}

Weber, Yvonne G. ^{[2
]}

Verhaert, Kristien ^{[3
]}

Ceulemans, Berten ^{[3
,4
]}

Guerrini, Renzo ^{[5
]}

Wuttke, Thomas V. ^{[2
,6
]}

Salvo-Vargas, Alberto ^{[2
,6
]}

Deprez, Liesbet

Claes, Lieve R. F.

Jordanova, Albena

Berkovic, Samuel F. ^{[1
]}

Lerche, Holger ^{[2
,6
]}

De Jonghe, Peter ^{[2
]}

Scheffer, Ingrid E. ^{[1
,7
]}

机构：

[1] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia

[2] Univ Ulm, Neurol Clin, Ulm, Germany

[3] Univ Antwerp, Div Neurol & Child Neurol, Univ Antwerp Hosp, B-2020 Antwerp, Belgium

[4] Epilepsy Ctr Children & Youth, Pulderbos, Belgium

[5] Univ Florence, Dept Neurol & Neurosurg, Childrens Hosp A Meyer, Florence, Italy

[6] Univ Ulm, Inst Appl Physiol, Ulm, Germany

[7] Univ Melbourne, Royal Melbourne Hosp, Dept Paediat, Melbourne, Vic 3050, Australia

来源：

ANNALS OF NEUROLOGY | 2009年 / 66卷 / 03期

关键词：

BLOOD-BRAIN-BARRIER; DEFICIENCY SYNDROME; FEBRILE SEIZURES; DYSKINESIA; FEATURES;

D O I：

10.1002/ana.21724

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two Mutations arose de novo, and two were familial. These Findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.

引用

页码：415 / 419

页数：5

共 20 条

[1]

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy [J].