The role of SLC2A1 in early onset and childhood absence epilepsies

Hiltrud Muhle; Ingo Helbig; Tobias Guldberg Frøslev; Arvid Suls; Sarah von Spiczak; Laura Line Klitten; Hans Atli Dahl; Klaus Brusgaard; Bernd Neubauer; Peter De Jonghe; Niels Tommerup; Ulrich Stephani; Helle Hjalgrim; Rikke Steensbjerre Møller

doi:10.1016/j.eplepsyres.2012.11.004

The role of SLC2A1 in early onset and childhood absence epilepsies

Hiltrud Muhle, Ingo Helbig, Tobias Guldberg Frøslev, Arvid Suls, Sarah von Spiczak, Laura Line Klitten, Hans Atli Dahl, Klaus Brusgaard, Bernd Neubauer, Peter De Jonghe, Niels Tommerup, Ulrich Stephani, Helle Hjalgrim, Rikke Steensbjerre Møller

Medical Genetics Program

13 Citationer (Scopus)

Abstract

Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.

Originalsprog	Engelsk
Tidsskrift	Epilepsy Research
Vol/bind	105
Udgave nummer	1-2
Sider (fra-til)	229-233
Antal sider	5
ISSN	0920-1211
DOI	https://doi.org/10.1016/j.eplepsyres.2012.11.004
Status	Udgivet - jul. 2013

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10.1016/j.eplepsyres.2012.11.004

http://www.sciencedirect.com/science/article/pii/S0920121112003610

Citationsformater

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abstract = "Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.",

author = "Hiltrud Muhle and Ingo Helbig and Fr{\o}slev, {Tobias Guldberg} and Arvid Suls and {von Spiczak}, Sarah and Klitten, {Laura Line} and Dahl, {Hans Atli} and Klaus Brusgaard and Bernd Neubauer and {De Jonghe}, Peter and Niels Tommerup and Ulrich Stephani and Helle Hjalgrim and M{\o}ller, {Rikke Steensbjerre}",

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journal = "Epilepsy Research",

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AU - Muhle, Hiltrud

AU - Helbig, Ingo

AU - Frøslev, Tobias Guldberg

AU - Suls, Arvid

AU - von Spiczak, Sarah

AU - Klitten, Laura Line

AU - Dahl, Hans Atli

AU - Brusgaard, Klaus

AU - Neubauer, Bernd

AU - De Jonghe, Peter

AU - Tommerup, Niels

AU - Stephani, Ulrich

AU - Hjalgrim, Helle

AU - Møller, Rikke Steensbjerre

PY - 2013/7

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AB - Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.

U2 - 10.1016/j.eplepsyres.2012.11.004

DO - 10.1016/j.eplepsyres.2012.11.004

M3 - Journal article

C2 - 23306390

SN - 0920-1211

VL - 105

SP - 229

EP - 233

JO - Epilepsy Research

JF - Epilepsy Research

IS - 1-2

ER -

The role of SLC2A1 in early onset and childhood absence epilepsies

Abstract

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