The role of SLC2A1 in early onset and childhood absence epilepsies

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

The role of SLC2A1 in early onset and childhood absence epilepsies. / Muhle, Hiltrud; Helbig, Ingo; Frøslev, Tobias Guldberg; Suls, Arvid; von Spiczak, Sarah; Klitten, Laura Line; Dahl, Hans Atli; Brusgaard, Klaus; Neubauer, Bernd; De Jonghe, Peter; Tommerup, Niels; Stephani, Ulrich; Hjalgrim, Helle; Møller, Rikke Steensbjerre.

In: Epilepsy Research, Vol. 105, No. 1-2, 07.01.2013, p. 229-233.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Muhle, H, Helbig, I, Frøslev, TG, Suls, A, von Spiczak, S, Klitten, LL, Dahl, HA, Brusgaard, K, Neubauer, B, De Jonghe, P, Tommerup, N, Stephani, U, Hjalgrim, H & Møller, RS 2013, 'The role of SLC2A1 in early onset and childhood absence epilepsies', Epilepsy Research, vol. 105, no. 1-2, pp. 229-233. https://doi.org/10.1016/j.eplepsyres.2012.11.004

APA

Muhle, H., Helbig, I., Frøslev, T. G., Suls, A., von Spiczak, S., Klitten, L. L., Dahl, H. A., Brusgaard, K., Neubauer, B., De Jonghe, P., Tommerup, N., Stephani, U., Hjalgrim, H., & Møller, R. S. (2013). The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Research, 105(1-2), 229-233. https://doi.org/10.1016/j.eplepsyres.2012.11.004

Vancouver

Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL et al. The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Research. 2013 Jan 7;105(1-2):229-233. https://doi.org/10.1016/j.eplepsyres.2012.11.004

Author

Muhle, Hiltrud ; Helbig, Ingo ; Frøslev, Tobias Guldberg ; Suls, Arvid ; von Spiczak, Sarah ; Klitten, Laura Line ; Dahl, Hans Atli ; Brusgaard, Klaus ; Neubauer, Bernd ; De Jonghe, Peter ; Tommerup, Niels ; Stephani, Ulrich ; Hjalgrim, Helle ; Møller, Rikke Steensbjerre. / The role of SLC2A1 in early onset and childhood absence epilepsies. In: Epilepsy Research. 2013 ; Vol. 105, No. 1-2. pp. 229-233.

Bibtex

@article{b8355e93710a49d89fe30cebe981a026,

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.",

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}",

year = "2013",

month = jan,

day = "7",

doi = "10.1016/j.eplepsyres.2012.11.004",

language = "English",

volume = "105",

pages = "229--233",

journal = "Journal of Epilepsy",

issn = "0920-1211",

publisher = "Elsevier",

number = "1-2",

}

RIS

TY - JOUR

T1 - The role of SLC2A1 in early onset and childhood absence epilepsies

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 - 2013/1/7

Y1 - 2013/1/7

N2 - 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.

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

VL - 105

SP - 229

EP - 233

JO - Journal of Epilepsy

JF - Journal of Epilepsy

SN - 0920-1211

IS - 1-2

ER -

ID: 44688970

Globe Institute