메뉴 건너뛰기




Volumn 12, Issue 6, 2008, Pages 438-445

Idiopathic megalencephaly-possible cause and treatment opportunities: From patient to lab

Author keywords

Animal model; Apoptosis; Epilepsy; Episodic ataxia; Megalencephaly; Neurogenes

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; CARBAMAZEPINE; MYELIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; POTASSIUM CHANNEL; PROTEIN BCL 2; SOMATOMEDIN C; VOLTAGE GATED CALCIUM CHANNEL;

EID: 53049094256     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.11.008     Document Type: Review
Times cited : (10)

References (39)
  • 1
    • 0019502894 scopus 로고
    • Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly
    • Lorber J., and Priestley B.L. Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. Dev Med Child Neurol 23 (1981) 494-504
    • (1981) Dev Med Child Neurol , vol.23 , pp. 494-504
    • Lorber, J.1    Priestley, B.L.2
  • 3
    • 21744443473 scopus 로고    scopus 로고
    • Ephrin signalling controls brain size by regulating apoptosis of neural progenitors
    • Depaepe V., Suarez-Gonzalez N., Dufour A., Passante L., Gorski J.A., Jones K.R., et al. Ephrin signalling controls brain size by regulating apoptosis of neural progenitors. Nature 435 (2005) 1244-1250
    • (2005) Nature , vol.435 , pp. 1244-1250
    • Depaepe, V.1    Suarez-Gonzalez, N.2    Dufour, A.3    Passante, L.4    Gorski, J.A.5    Jones, K.R.6
  • 4
    • 0029956641 scopus 로고    scopus 로고
    • Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice
    • Kuida K., Zheng T.S., Na S., Kuan C., Yang D., Karasuyama H., et al. Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice. Nature 384 (1996) 368-372
    • (1996) Nature , vol.384 , pp. 368-372
    • Kuida, K.1    Zheng, T.S.2    Na, S.3    Kuan, C.4    Yang, D.5    Karasuyama, H.6
  • 5
    • 0032544449 scopus 로고    scopus 로고
    • Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development
    • Cecconi F., Alvarez-Bolado G., Meyer B.I., Roth K.A., and Gruss P. Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. Cell 94 (1998) 727-737
    • (1998) Cell , vol.94 , pp. 727-737
    • Cecconi, F.1    Alvarez-Bolado, G.2    Meyer, B.I.3    Roth, K.A.4    Gruss, P.5
  • 6
    • 0032544564 scopus 로고    scopus 로고
    • Apaf1 is required for mitochondrial pathways of apoptosis and brain development
    • Yoshida H., Kong Y.Y., Yoshida R., Elia A.J., Hakem A., Hakem R., et al. Apaf1 is required for mitochondrial pathways of apoptosis and brain development. Cell 94 (1998) 739-750
    • (1998) Cell , vol.94 , pp. 739-750
    • Yoshida, H.1    Kong, Y.Y.2    Yoshida, R.3    Elia, A.J.4    Hakem, A.5    Hakem, R.6
  • 7
    • 0036551775 scopus 로고    scopus 로고
    • Mutant mouse models of insulin-like growth factor actions in the central nervous system
    • D'Ercole A.J., Ye P., and O'Kusky J.R. Mutant mouse models of insulin-like growth factor actions in the central nervous system. Neuropeptides 36 (2002) 209-220
    • (2002) Neuropeptides , vol.36 , pp. 209-220
    • D'Ercole, A.J.1    Ye, P.2    O'Kusky, J.R.3
  • 9
    • 0035734381 scopus 로고    scopus 로고
    • Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease
    • Kwon C.H., Zhu X., Zhang J., Knoop L.L., Tharp R., Smeyne R.J., et al. Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 29 (2001) 404-411
    • (2001) Nat Genet , vol.29 , pp. 404-411
    • Kwon, C.H.1    Zhu, X.2    Zhang, J.3    Knoop, L.L.4    Tharp, R.5    Smeyne, R.J.6
  • 10
    • 0036523995 scopus 로고    scopus 로고
    • Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
    • Leegwater J., Boor I., Yuan Q., van Der Steen J., Visser A., Konst A.A., et al. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet 110 (2002) 279-283
    • (2002) Hum Genet , vol.110 , pp. 279-283
    • Leegwater, J.1    Boor, I.2    Yuan, Q.3    van Der Steen, J.4    Visser, A.5    Konst, A.A.6
  • 11
    • 0030330766 scopus 로고    scopus 로고
    • Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain
    • Donahue L.R., Cook S.A., Johnson K.R., Bronson R.T., and Davisson M.T. Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. Mamm Genome 7 (1996) 871-876
    • (1996) Mamm Genome , vol.7 , pp. 871-876
    • Donahue, L.R.1    Cook, S.A.2    Johnson, K.R.3    Bronson, R.T.4    Davisson, M.T.5
  • 12
    • 0025652194 scopus 로고
    • Megalencephaly in the epileptic chicken: a morphometric study of the adult brain
    • George D.H., Munoz D.G., McConnell T., and Crawford R.D. Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. Neuroscience 39 (1990) 471-477
    • (1990) Neuroscience , vol.39 , pp. 471-477
    • George, D.H.1    Munoz, D.G.2    McConnell, T.3    Crawford, R.D.4
  • 14
    • 0015309163 scopus 로고
    • Modification of seizure activity by electrical stimulation: II. Motor seizure
    • Racine R.J. Modification of seizure activity by electrical stimulation: II. Motor seizure. Electroencephalogr Clin Neurophysiol 32 (1972) 281-294
    • (1972) Electroencephalogr Clin Neurophysiol , vol.32 , pp. 281-294
    • Racine, R.J.1
  • 15
    • 33750204758 scopus 로고    scopus 로고
    • Carbamazepine protects against megencephaly and abnormal expression of BDNF and Nogo signaling components in the mceph/mceph mouse
    • Lavebratt C., Trifunovski A., Persson A.S., Wang F.H., Klason T., Ohman I., et al. Carbamazepine protects against megencephaly and abnormal expression of BDNF and Nogo signaling components in the mceph/mceph mouse. Neurobiol Dis 24 (2006) 374-383
    • (2006) Neurobiol Dis , vol.24 , pp. 374-383
    • Lavebratt, C.1    Trifunovski, A.2    Persson, A.S.3    Wang, F.H.4    Klason, T.5    Ohman, I.6
  • 16
    • 0346876283 scopus 로고    scopus 로고
    • MRI and in situ hybridization reveal early disturbances in cerebral size and gene expression in the megencephalic mouse
    • Diez M., Schweinhardt P., Petersson S., Wang F.-H., Lavebratt C., Schalling M., et al. MRI and in situ hybridization reveal early disturbances in cerebral size and gene expression in the megencephalic mouse. Eur J Neurosci 18 (2003) 3218-3230
    • (2003) Eur J Neurosci , vol.18 , pp. 3218-3230
    • Diez, M.1    Schweinhardt, P.2    Petersson, S.3    Wang, F.-H.4    Lavebratt, C.5    Schalling, M.6
  • 18
    • 0032895470 scopus 로고    scopus 로고
    • A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
    • Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122 (1999) 817-825
    • (1999) Brain , vol.122 , pp. 817-825
    • Zuberi, S.M.1    Eunson, L.H.2    Spauschus, A.3    De Silva, R.4    Tolmie, J.5    Wood, N.W.6
  • 19
    • 0033797135 scopus 로고    scopus 로고
    • Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
    • Eunson L.H., Rea R., Zuberi S.M., Youroukos S., Panayiotopoulos C.P., Liguori R., et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 48 (2000) 647-656
    • (2000) Ann Neurol , vol.48 , pp. 647-656
    • Eunson, L.H.1    Rea, R.2    Zuberi, S.M.3    Youroukos, S.4    Panayiotopoulos, C.P.5    Liguori, R.6
  • 20
    • 28544433058 scopus 로고    scopus 로고
    • A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction
    • Persson A.S., Klement G., Almgren M., Sahlholm K., Nilsson J., Århem P., et al. A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction. BMC Neurosci 6 (2005) 65
    • (2005) BMC Neurosci , vol.6 , pp. 65
    • Persson, A.S.1    Klement, G.2    Almgren, M.3    Sahlholm, K.4    Nilsson, J.5    Århem, P.6
  • 22
    • 34248577303 scopus 로고    scopus 로고
    • A critical period for enhanced synaptic plasticity in newly generated neurons of the adult brain
    • Ge S., Yang C.H., Hsu K.S., Ming G.L., and Song H. A critical period for enhanced synaptic plasticity in newly generated neurons of the adult brain. Neuron 54 (2007) 559-566
    • (2007) Neuron , vol.54 , pp. 559-566
    • Ge, S.1    Yang, C.H.2    Hsu, K.S.3    Ming, G.L.4    Song, H.5
  • 23
    • 34247470685 scopus 로고    scopus 로고
    • Lack of potassium channel induces proliferation and survival causing increased neurogenesis and two-fold hippocampus enlargement
    • Almgren M., Persson A.S., Fenghua C., Witgen B.M., Schalling M., Nyengaard J.R., et al. Lack of potassium channel induces proliferation and survival causing increased neurogenesis and two-fold hippocampus enlargement. Hippocampus 17 (2007) 292-304
    • (2007) Hippocampus , vol.17 , pp. 292-304
    • Almgren, M.1    Persson, A.S.2    Fenghua, C.3    Witgen, B.M.4    Schalling, M.5    Nyengaard, J.R.6
  • 24
    • 33845414645 scopus 로고    scopus 로고
    • Environment matters: synaptic properties of neurons born in the epileptic adult brain develop to reduce excitability
    • Jakubs K., Nanobashvili A., Bonde S., Ekdahl C.T., Kokaia Z., Kokaia M., et al. Environment matters: synaptic properties of neurons born in the epileptic adult brain develop to reduce excitability. Neuron 52 (2006) 1047-1059
    • (2006) Neuron , vol.52 , pp. 1047-1059
    • Jakubs, K.1    Nanobashvili, A.2    Bonde, S.3    Ekdahl, C.T.4    Kokaia, Z.5    Kokaia, M.6
  • 26
    • 33646102681 scopus 로고    scopus 로고
    • Seizures accelerate functional integration of adult-generated granule cells
    • Overstreet-Wadiche L.S., Bromberg D.A., Bensen A.L., and Westbrook G.L. Seizures accelerate functional integration of adult-generated granule cells. J Neurosci 26 (2006) 4095-4103
    • (2006) J Neurosci , vol.26 , pp. 4095-4103
    • Overstreet-Wadiche, L.S.1    Bromberg, D.A.2    Bensen, A.L.3    Westbrook, G.L.4
  • 27
    • 27744544312 scopus 로고    scopus 로고
    • Seizures induce proliferation and dispersion of doublecortin-positive hippocampal progenitor cells
    • Jessberger S., Römer B., Babu H., and Kempermann G. Seizures induce proliferation and dispersion of doublecortin-positive hippocampal progenitor cells. Exp Neurol 196 (2005) 342-351
    • (2005) Exp Neurol , vol.196 , pp. 342-351
    • Jessberger, S.1    Römer, B.2    Babu, H.3    Kempermann, G.4
  • 28
    • 2442477425 scopus 로고    scopus 로고
    • Excitation-neurogenesis coupling in adult neural stem/progenitor cells
    • Deisseroth K., Singla S., Toda H., Monje M., Palmer T.D., and Malenka R.C. Excitation-neurogenesis coupling in adult neural stem/progenitor cells. Neuron 42 (2004) 535-552
    • (2004) Neuron , vol.42 , pp. 535-552
    • Deisseroth, K.1    Singla, S.2    Toda, H.3    Monje, M.4    Palmer, T.D.5    Malenka, R.C.6
  • 29
    • 15544370150 scopus 로고    scopus 로고
    • Adult neurogenesis: from precursors to network and physiology
    • Abrous D.N., Koehl M., and Le Moal M. Adult neurogenesis: from precursors to network and physiology. Physiol Rev 85 (2005) 523-569
    • (2005) Physiol Rev , vol.85 , pp. 523-569
    • Abrous, D.N.1    Koehl, M.2    Le Moal, M.3
  • 30
    • 24644506108 scopus 로고    scopus 로고
    • GABAergic excitation promotes neuronal differentiation in adult hippocampal progenitor cells
    • Tozuka Y., Fukuda S., Namba T., Seki T., and Hisatsune T. GABAergic excitation promotes neuronal differentiation in adult hippocampal progenitor cells. Neuron 47 (2005) 803-815
    • (2005) Neuron , vol.47 , pp. 803-815
    • Tozuka, Y.1    Fukuda, S.2    Namba, T.3    Seki, T.4    Hisatsune, T.5
  • 31
    • 0346868807 scopus 로고    scopus 로고
    • Neurogenesis in the adult brain: new strategies for central nervous system diseases
    • Lie D.C., Song H., Colamarino S.A., Ming G.L., and Gage F.H. Neurogenesis in the adult brain: new strategies for central nervous system diseases. Annu Rev Pharmacol Toxicol 44 (2004) 399-421
    • (2004) Annu Rev Pharmacol Toxicol , vol.44 , pp. 399-421
    • Lie, D.C.1    Song, H.2    Colamarino, S.A.3    Ming, G.L.4    Gage, F.H.5
  • 32
    • 34247145869 scopus 로고    scopus 로고
    • Apoptosis signalling pathways in seizure-induced neuronal death and epilepsy
    • Henshall D.C. Apoptosis signalling pathways in seizure-induced neuronal death and epilepsy. Biochem Soc Trans 35 Part 2 (2007) 421-423
    • (2007) Biochem Soc Trans , vol.35 , Issue.PART 2 , pp. 421-423
    • Henshall, D.C.1
  • 33
    • 34447649351 scopus 로고    scopus 로고
    • Neuronal apoptosis in the resected sclerotic hippocampus in patients with mesial temporal lobe epilepsy
    • Xu S., Pang Q., Liu Y., Shang W., Zhai G., and Ge M. Neuronal apoptosis in the resected sclerotic hippocampus in patients with mesial temporal lobe epilepsy. J Clin Neurosci 14 (2007) 835-840
    • (2007) J Clin Neurosci , vol.14 , pp. 835-840
    • Xu, S.1    Pang, Q.2    Liu, Y.3    Shang, W.4    Zhai, G.5    Ge, M.6
  • 35
    • 0034648737 scopus 로고    scopus 로고
    • The megencephaly mouse has disturbances in the cholecystokinin (CCK), enkefalin (ENK), galanin (GAL) and neuropeptide Y (NPY) systems
    • Petersson S., Lavebratt C., Schalling M., and Hökfelt T. The megencephaly mouse has disturbances in the cholecystokinin (CCK), enkefalin (ENK), galanin (GAL) and neuropeptide Y (NPY) systems. Neuroscience 100 (2000) 297-317
    • (2000) Neuroscience , vol.100 , pp. 297-317
    • Petersson, S.1    Lavebratt, C.2    Schalling, M.3    Hökfelt, T.4
  • 37
    • 0033922409 scopus 로고    scopus 로고
    • Body dimensions of infants exposed to antiepileptic drugs in utero: observations spanning 25 years
    • Wide K., Winbladh B., Tomson T., and Källén B. Body dimensions of infants exposed to antiepileptic drugs in utero: observations spanning 25 years. Epilepsia 41 (2000) 854-861
    • (2000) Epilepsia , vol.41 , pp. 854-861
    • Wide, K.1    Winbladh, B.2    Tomson, T.3    Källén, B.4
  • 38
    • 0036123810 scopus 로고    scopus 로고
    • Lidocaine-dependent early infantile status epilepticus with highly suppressed EEG
    • Sawaishi Y., Yano T., Enoki M., and Takada G. Lidocaine-dependent early infantile status epilepticus with highly suppressed EEG. Epilepsia 43 (2002) 201-204
    • (2002) Epilepsia , vol.43 , pp. 201-204
    • Sawaishi, Y.1    Yano, T.2    Enoki, M.3    Takada, G.4
  • 39
    • 1542500954 scopus 로고    scopus 로고
    • Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly
    • Topcu M., Yalnizoglu D., Saatci I., Haliloglu G., Topaloglu H., Senbil N., et al. Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. Turk J Pediatr 46 (2004) 67-71
    • (2004) Turk J Pediatr , vol.46 , pp. 67-71
    • Topcu, M.1    Yalnizoglu, D.2    Saatci, I.3    Haliloglu, G.4    Topaloglu, H.5    Senbil, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.