The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Jan Larsen; Katrine Marie Johannesen; Jakob Ek; Shan Tang; Carla Marini; Susanne Blichfeldt; Maria Kibaek; Sarah von Spiczak; Sarah Weckhuysen; Mimosa Frangu; Bernd Axel Neubauer; Peter Uldall; Pasquale Striano; Federico Zara; Rebecca Kleiss; Michael Simpson; Hiltrud Muhle; Marina Nikanorova; Birgit Jepsen; Niels Tommerup; Ulrich Stephani; Renzo Guerrini; Morten Dunø; Helle Hjalgrim; Deb Pal; Ingo Helbig; Rikke Steensbjerre Møller

doi:10.1111/epi.13222

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Jan Larsen, Katrine Marie Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibaek, Sarah von Spiczak, Sarah Weckhuysen, Mimosa Frangu, Bernd Axel Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels TommerupUlrich Stephani, Renzo Guerrini, Morten Dunø, Helle Hjalgrim, Deb Pal, Ingo Helbig, Rikke Steensbjerre Møller

44 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Epilepsia
Vol/bind	56
Udgave nummer	12
Sider (fra-til)	E203-E208
Antal sider	6
ISSN	0013-9580
DOI	https://doi.org/10.1111/epi.13222
Status	Udgivet - 1 dec. 2015

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10.1111/epi.13222

epi.13222Forlagets udgivne version, 160 KB

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Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., ... Møller, R. S. (2015). The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia, 56(12), E203-E208. https://doi.org/10.1111/epi.13222

Larsen, J, Johannesen, KM, Ek, J, Tang, S, Marini, C, Blichfeldt, S, Kibaek, M, von Spiczak, S, Weckhuysen, S, Frangu, M, Neubauer, BA, Uldall, P, Striano, P, Zara, F, Kleiss, R, Simpson, M, Muhle, H, Nikanorova, M, Jepsen, B, Tommerup, N, Stephani, U, Guerrini, R, Dunø, M, Hjalgrim, H, Pal, D, Helbig, I & Møller, RS 2015, 'The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome', Epilepsia, bind 56, nr. 12, s. E203-E208. https://doi.org/10.1111/epi.13222

@article{b5320931b7f74258bdb8b70573ac38e6,

title = "The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome",

keywords = "Glucose transporter 1 deficiency syndrome, Childhood neurology, Epilepsy genetics",

author = "Jan Larsen and Johannesen, {Katrine Marie} and Jakob Ek and Shan Tang and Carla Marini and Susanne Blichfeldt and Maria Kibaek and {von Spiczak}, Sarah and Sarah Weckhuysen and Mimosa Frangu and Neubauer, {Bernd Axel} and Peter Uldall and Pasquale Striano and Federico Zara and Rebecca Kleiss and Michael Simpson and Hiltrud Muhle and Marina Nikanorova and Birgit Jepsen and Niels Tommerup and Ulrich Stephani and Renzo Guerrini and Morten Dun{\o} and Helle Hjalgrim and Deb Pal and Ingo Helbig and M{\o}ller, {Rikke Steensbjerre}",

year = "2015",

month = dec,

day = "1",

doi = "10.1111/epi.13222",

language = "English",

volume = "56",

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journal = "Epilepsia",

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TY - JOUR

T1 - The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

AU - Larsen, Jan

AU - Johannesen, Katrine Marie

AU - Ek, Jakob

AU - Tang, Shan

AU - Marini, Carla

AU - Blichfeldt, Susanne

AU - Kibaek, Maria

AU - von Spiczak, Sarah

AU - Weckhuysen, Sarah

AU - Frangu, Mimosa

AU - Neubauer, Bernd Axel

AU - Uldall, Peter

AU - Striano, Pasquale

AU - Zara, Federico

AU - Kleiss, Rebecca

AU - Simpson, Michael

AU - Muhle, Hiltrud

AU - Nikanorova, Marina

AU - Jepsen, Birgit

AU - Tommerup, Niels

AU - Stephani, Ulrich

AU - Guerrini, Renzo

AU - Dunø, Morten

AU - Hjalgrim, Helle

AU - Pal, Deb

AU - Helbig, Ingo

AU - Møller, Rikke Steensbjerre

PY - 2015/12/1

Y1 - 2015/12/1

KW - Glucose transporter 1 deficiency syndrome

KW - Childhood neurology

KW - Epilepsy genetics

U2 - 10.1111/epi.13222

DO - 10.1111/epi.13222

M3 - Letter

C2 - 26537434

SN - 0013-9580

VL - 56

SP - E203-E208

JO - Epilepsia

JF - Epilepsia

IS - 12

ER -

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

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