Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency

被引：21

作者：

Afawi, Zaid ^{[1
]}

Suls, Arvid ^{[2
,3
,4
]}

Ekstein, Dana ^{[5
]}

Kivity, Sara ^{[6
]}

Neufeld, Miriam Y. ^{[1
]}

Oliver, Karen ^{[7
]}

De Jonghe, Peter ^{[2
,3
,4
,8
]}

Korczyn, Amos D. ^{[9
]}

Berkovic, Samuel F. ^{[7
]}

机构：

[1] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Neurol, IL-69978 Tel Aviv, Israel

[2] VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium

[3] Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium

[4] Univ Antwerp, B-2020 Antwerp, Belgium

[5] Hadassah Ein Kerem Univ Med Ctr, Dept Neurol, Jerusalem, Israel

[6] Schneider Childrens Med Ctr Israel, Epilepsy Unit, Petah Tiqwa, Israel

[7] Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg West, Australia

[8] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[9] Tel Aviv Univ, Sieratzki Chair Neurol, IL-69978 Tel Aviv, Israel

来源：

EPILEPSIA | 2010年 / 51卷 / 12期

关键词：

Paroxysmal exercise-induced dyskinesia; Epilepsy; GLUT1; SLC2A1; Genetic; GLUCOSE-TRANSPORTER GLUT1; MUTATIONS;

D O I：

10.1111/j.1528-1167.2010.02726.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P>Paroxysmal exercise-induced dyskinesia (PED) and epilepsy without intellectual disability have recently been recognized as manifestations of deficiency of the glucose transporter GLUT1, due to mutations in the gene SLC2A1. We describe a family with six definitely affected members in two generations. Two had PED, three had epilepsy, and one had both. A missense mutation in SLC2A1 (c.950A > C; p.N317T) was detected in five living affected members, but absent in three nonaffected first-degree members and in one subject believed to be a phenocopy. The clinical picture of mild epilepsy with onset in adolescence or early adulthood plus PED should raise a suspicion of GLUT1 deficiency.

引用

页码：2466 / 2469

页数：4

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