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 Citations (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.

Original language	English
Journal	Epilepsy Research
Volume	105
Issue number	1-2
Pages (from-to)	229-233
Number of pages	5
ISSN	0920-1211
DOIs	https://doi.org/10.1016/j.eplepsyres.2012.11.004
Publication status	Published - Jul 2013

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10.1016/j.eplepsyres.2012.11.004

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

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title = "The role of SLC2A1 in early onset and childhood absence epilepsies",

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.",

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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

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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

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SP - 229

EP - 233

JO - Journal of Epilepsy

JF - Journal of Epilepsy

IS - 1-2

ER -

The role of SLC2A1 in early onset and childhood absence epilepsies

Abstract

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