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Volumn 19, Issue 2, 2015, Pages 170-175

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Author keywords

Generalized epilepsy; GLUT1 deficiency; SLC2A1

Indexed keywords

GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN;

EID: 84923204713     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.11.009     Document Type: Article
Times cited : (12)

References (24)
  • 1
  • 2
    • 84871978529 scopus 로고    scopus 로고
    • Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
    • T. Arsov, S.A. Mullen, and S. Rogers Glucose transporter 1 deficiency in the idiopathic generalized epilepsies Ann Neurol 72 2012 807 815
    • (2012) Ann Neurol , vol.72 , pp. 807-815
    • Arsov, T.1    Mullen, S.A.2    Rogers, S.3
  • 3
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • A. Suls, S.A. Mullen, and Y.G. Weber Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1 Ann Neurol 66 2009 415 419
    • (2009) Ann Neurol , vol.66 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3
  • 4
    • 84870579680 scopus 로고    scopus 로고
    • Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
    • T. Arsov, S.A. Mullen, and J.A. Damiano Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency Epilepsia 53 2012 e204 e207
    • (2012) Epilepsia , vol.53 , pp. e204-e207
    • Arsov, T.1    Mullen, S.A.2    Damiano, J.A.3
  • 5
    • 80052699025 scopus 로고    scopus 로고
    • Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
    • S.A. Mullen, C. Marini, and A. Suls Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy Arch Neurol 68 2011 1152 1155
    • (2011) Arch Neurol , vol.68 , pp. 1152-1155
    • Mullen, S.A.1    Marini, C.2    Suls, A.3
  • 6
    • 60749088698 scopus 로고    scopus 로고
    • Glut1 deficiency: CSF glucose. How low is too low?
    • D.C. De Vivo, and D. Wang Glut1 deficiency: CSF glucose. How low is too low? Rev Neurol Paris 164 2008 877 880
    • (2008) Rev Neurol Paris , vol.164 , pp. 877-880
    • De Vivo, D.C.1    Wang, D.2
  • 7
    • 84888876391 scopus 로고    scopus 로고
    • Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: A systematic review
    • W.G. Leen, R.A. Wevers, and E.J. Kamsteeg Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review JAMA Neurol 70 2013 1440 1444
    • (2013) JAMA Neurol , vol.70 , pp. 1440-1444
    • Leen, W.G.1    Wevers, R.A.2    Kamsteeg, E.J.3
  • 8
    • 84866054022 scopus 로고    scopus 로고
    • Glucose transporter type i deficiency syndrome: Epilepsy phenotypes and outcomes
    • A.W. Pong, B.R. Geary, and K.M. Engelstad Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes Epilepsia 53 2012 1503 1510
    • (2012) Epilepsia , vol.53 , pp. 1503-1510
    • Pong, A.W.1    Geary, B.R.2    Engelstad, K.M.3
  • 9
    • 77950286198 scopus 로고    scopus 로고
    • Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
    • W.G. Leen, J. Klepper, and M.M. Verbeek Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Brain 133 2010 655 670
    • (2010) Brain , vol.133 , pp. 655-670
    • Leen, W.G.1    Klepper, J.2    Verbeek, M.M.3
  • 10
    • 79958270337 scopus 로고    scopus 로고
    • A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome
    • Y. Ito, H. Oguni, and S. Ito A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome Dev Med Child Neurol 53 2011 658 663
    • (2011) Dev Med Child Neurol , vol.53 , pp. 658-663
    • Ito, Y.1    Oguni, H.2    Ito, S.3
  • 11
    • 84881047744 scopus 로고    scopus 로고
    • Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)
    • T.S. Pearson, C. Akman, and V.J. Hinton Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) Curr Neurol Neurosci Rep 13 2013 342
    • (2013) Curr Neurol Neurosci Rep , vol.13 , pp. 342
    • Pearson, T.S.1    Akman, C.2    Hinton, V.J.3
  • 12
    • 0034957202 scopus 로고    scopus 로고
    • International league against E. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
    • J. Engel Jr. International league against E. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology Epilepsia 42 2001 796 803
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel, Jr.J.1
  • 13
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE commission on classification and terminology, 2005-2009
    • A.T. Berg, S.F. Berkovic, and M.J. Brodie Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005-2009 Epilepsia 51 2010 676 685
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 14
    • 57449090156 scopus 로고    scopus 로고
    • Typical absence seizures and related epileptic syndromes: Assessment of current state and directions for future research
    • C.P. Panayiotopoulos Typical absence seizures and related epileptic syndromes: assessment of current state and directions for future research Epilepsia 49 2008 2131 2139
    • (2008) Epilepsia , vol.49 , pp. 2131-2139
    • Panayiotopoulos, C.P.1
  • 15
    • 78649439572 scopus 로고    scopus 로고
    • Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress
    • S.A. Kelley, and E.H. Kossoff Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress Dev Med Child Neurol 52 2010 988 993
    • (2010) Dev Med Child Neurol , vol.52 , pp. 988-993
    • Kelley, S.A.1    Kossoff, E.H.2
  • 16
    • 84864655445 scopus 로고    scopus 로고
    • Cerebrospinal fluid glucose and lactate: Age-specific reference values and implications for clinical practice
    • W.G. Leen, M.A. Willemsen, and R.A. Wevers Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice PLoS One 7 2012 e42745
    • (2012) PLoS One , vol.7 , pp. e42745
    • Leen, W.G.1    Willemsen, M.A.2    Wevers, R.A.3
  • 17
    • 84858120198 scopus 로고    scopus 로고
    • GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
    • P. Striano, Y.G. Weber, and M.R. Toliat GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy Neurology 78 2012 557 562
    • (2012) Neurology , vol.78 , pp. 557-562
    • Striano, P.1    Weber, Y.G.2    Toliat, M.R.3
  • 18
    • 84885380174 scopus 로고    scopus 로고
    • Clinical dissection of early onset absence epilepsy in children and prognostic implications
    • S. Agostinelli, P. Accorsi, and F. Beccaria Clinical dissection of early onset absence epilepsy in children and prognostic implications Epilepsia 54 2013 1761 1770
    • (2013) Epilepsia , vol.54 , pp. 1761-1770
    • Agostinelli, S.1    Accorsi, P.2    Beccaria, F.3
  • 19
    • 84878435749 scopus 로고    scopus 로고
    • The role of SLC2A1 in early onset and childhood absence epilepsies
    • H. Muhle, I. Helbig, and T.G. Froslev The role of SLC2A1 in early onset and childhood absence epilepsies Epilepsy Res 105 2013 229 233
    • (2013) Epilepsy Res , vol.105 , pp. 229-233
    • Muhle, H.1    Helbig, I.2    Froslev, T.G.3
  • 20
    • 55349090997 scopus 로고    scopus 로고
    • Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy
    • E. Roulet-Perez, D. Ballhausen, and L. Bonafe Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy Epilepsia 49 2008 1955 1958
    • (2008) Epilepsia , vol.49 , pp. 1955-1958
    • Roulet-Perez, E.1    Ballhausen, D.2    Bonafe, L.3
  • 21
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • S.A. Mullen, A. Suls, and P. De Jonghe Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency Neurology 75 2010 432 440
    • (2010) Neurology , vol.75 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3
  • 22
    • 84888201220 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome 2013: Current state of the art
    • V. De Giorgis, and P. Veggiotti GLUT1 deficiency syndrome 2013: current state of the art Seizure 22 2013 803 811
    • (2013) Seizure , vol.22 , pp. 803-811
    • De Giorgis, V.1    Veggiotti, P.2
  • 23
    • 77953870704 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation
    • A. Urbizu, E. Cuenca-Leon, and M. Raspall-Chaure Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation J Neurol Sci 295 2010 110 113
    • (2010) J Neurol Sci , vol.295 , pp. 110-113
    • Urbizu, A.1    Cuenca-Leon, E.2    Raspall-Chaure, M.3
  • 24
    • 84880325593 scopus 로고    scopus 로고
    • Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome
    • J. Klepper Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome Neuropediatrics 44 2013 235 236
    • (2013) Neuropediatrics , vol.44 , pp. 235-236
    • Klepper, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.