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 Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza 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 Duno, Helle Hjalgrim, Deb Pal, Ingo Helbig, Rikke Steensbjerre Møller, MAE working group of the EuroEPINOMICS RES Consortium

Research output: Contribution to journalLetterResearchpeer-review

Abstract

The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.

Original languageEnglish
JournalEpilepsia
Volume56
Issue number12
Pages (from-to)e203-8
ISSN0013-9580
DOIs
Publication statusPublished - Dec 2015

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Absence Epilepsy
Mutation
Movement Disorders
Mutation Rate
Population
Proteins

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Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., ... MAE working group of the EuroEPINOMICS RES Consortium (2015). The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia, 56(12), e203-8. https://doi.org/10.1111/epi.13222
Larsen, Jan ; Johannesen, Katrine Marie ; Ek, Jakob ; Tang, Shan ; Marini, Carla ; Blichfeldt, Susanne ; Kibæk, Maria ; von Spiczak, Sarah ; Weckhuysen, Sarah ; Frangu, Mimoza ; Neubauer, Bernd Axel ; Uldall, Peter ; Striano, Pasquale ; Zara, Federico ; Kleiss, Rebecca ; Simpson, Michael ; Muhle, Hiltrud ; Nikanorova, Marina ; Jepsen, Birgit ; Tommerup, Niels ; Stephani, Ulrich ; Guerrini, Renzo ; Duno, Morten ; Hjalgrim, Helle ; Pal, Deb ; Helbig, Ingo ; Møller, Rikke Steensbjerre ; MAE working group of the EuroEPINOMICS RES Consortium. / The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. In: Epilepsia. 2015 ; Vol. 56, No. 12. pp. e203-8.
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title = "The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome",
abstract = "The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10{\%}) of 50 patients with absence epilepsy, and in one (2.7{\%}) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.",
author = "Jan Larsen and Johannesen, {Katrine Marie} and Jakob Ek and Shan Tang and Carla Marini and Susanne Blichfeldt and Maria Kib{\ae}k and {von Spiczak}, Sarah and Sarah Weckhuysen and Mimoza 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 Duno and Helle Hjalgrim and Deb Pal and Ingo Helbig and M{\o}ller, {Rikke Steensbjerre} and {MAE working group of the EuroEPINOMICS RES Consortium}",
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year = "2015",
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Larsen, J, Johannesen, KM, Ek, J, Tang, S, Marini, C, Blichfeldt, S, Kibæk, 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, Duno, M, Hjalgrim, H, Pal, D, Helbig, I, Møller, RS & MAE working group of the EuroEPINOMICS RES Consortium 2015, 'The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome', Epilepsia, vol. 56, no. 12, pp. e203-8. https://doi.org/10.1111/epi.13222

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. / Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob; Tang, Shan; Marini, Carla; Blichfeldt, Susanne; Kibæk, Maria; von Spiczak, Sarah; Weckhuysen, Sarah; Frangu, Mimoza; Neubauer, Bernd Axel; Uldall, Peter; Striano, Pasquale; Zara, Federico; Kleiss, Rebecca; Simpson, Michael; Muhle, Hiltrud; Nikanorova, Marina; Jepsen, Birgit; Tommerup, Niels; Stephani, Ulrich; Guerrini, Renzo; Duno, Morten; Hjalgrim, Helle; Pal, Deb; Helbig, Ingo; Møller, Rikke Steensbjerre; MAE working group of the EuroEPINOMICS RES Consortium.

In: Epilepsia, Vol. 56, No. 12, 12.2015, p. e203-8.

Research output: Contribution to journalLetterResearchpeer-review

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 - Kibæk, Maria

AU - von Spiczak, Sarah

AU - Weckhuysen, Sarah

AU - Frangu, Mimoza

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 - Duno, Morten

AU - Hjalgrim, Helle

AU - Pal, Deb

AU - Helbig, Ingo

AU - Møller, Rikke Steensbjerre

AU - MAE working group of the EuroEPINOMICS RES Consortium

N1 - Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

PY - 2015/12

Y1 - 2015/12

N2 - The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.

AB - The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.

U2 - 10.1111/epi.13222

DO - 10.1111/epi.13222

M3 - Letter

C2 - 26537434

VL - 56

SP - e203-8

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 12

ER -