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Volumn 226, Issue , 2016, Pages 61-79

mTOR signaling pathway genes in focal epilepsies

Author keywords

DEPDC5; GATOR1; Genetics; mTOR; NPRL2; NPRL3; SUDEP

Indexed keywords

DISHEVELLED PROTEIN; EGL 10 PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN; NITROGEN PERMEASE REGULATOR LIKE 2 PROTEIN; NITROGEN PERMEASE REGULATOR LIKE 3 PROTEIN; PERMEASE; PLECKSTRIN; PROTEIN; TARGET OF RAPAMYCIN KINASE; UNCLASSIFIED DRUG; DEPDC5 PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; NPRL2 PROTEIN, HUMAN; NPRL3 PROTEIN, HUMAN; REPRESSOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

EID: 85007543171     PISSN: 00796123     EISSN: 18757855     Source Type: Book Series    
DOI: 10.1016/bs.pbr.2016.04.013     Document Type: Chapter
Times cited : (68)

References (41)
  • 1
    • 84910612231 scopus 로고    scopus 로고
    • Molecular architecture and function of the SEA complex, a modulator of the TORC1 pathway
    • Algret, R., et al. Molecular architecture and function of the SEA complex, a modulator of the TORC1 pathway. Mol. Cell. Proteomics 13 (2014), 2855–2870.
    • (2014) Mol. Cell. Proteomics , vol.13 , pp. 2855-2870
    • Algret, R.1
  • 2
    • 84971673251 scopus 로고    scopus 로고
    • Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
    • Bagnall, R.D., et al. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann. Neurol. 79 (2016), 522–534.
    • (2016) Ann. Neurol. , vol.79 , pp. 522-534
    • Bagnall, R.D.1
  • 3
    • 84878357685 scopus 로고    scopus 로고
    • A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1
    • Bar-Peled, L., et al. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 340 (2013), 1100–1106.
    • (2013) Science , vol.340 , pp. 1100-1106
    • Bar-Peled, L.1
  • 4
    • 84925408245 scopus 로고    scopus 로고
    • Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5
    • Baulac, S., Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog. Brain Res. 213 (2014), 123–139.
    • (2014) Prog. Brain Res. , vol.213 , pp. 123-139
    • Baulac, S.1
  • 5
    • 84925430981 scopus 로고    scopus 로고
    • Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
    • Baulac, S., et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann. Neurol. 77 (2015), 675–683.
    • (2015) Ann. Neurol. , vol.77 , pp. 675-683
    • Baulac, S.1
  • 6
    • 4844231148 scopus 로고    scopus 로고
    • mTOR cascade activation distinguishes tubers from focal cortical dysplasia
    • Baybis, M., et al. mTOR cascade activation distinguishes tubers from focal cortical dysplasia. Ann. Neurol. 56 (2004), 478–487.
    • (2004) Ann. Neurol. , vol.56 , pp. 478-487
    • Baybis, M.1
  • 7
    • 78651274775 scopus 로고    scopus 로고
    • The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission
    • Blumcke, I., et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 52 (2011), 158–174.
    • (2011) Epilepsia , vol.52 , pp. 158-174
    • Blumcke, I.1
  • 8
    • 84979668151 scopus 로고    scopus 로고
    • Epileptic spasms are a feature of DEPDC5 mTORopathy
    • Carvill, G.L., et al. Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurol. Genet., 1, 2015, e17.
    • (2015) Neurol. Genet. , vol.1 , pp. e17
    • Carvill, G.L.1
  • 9
    • 84923250272 scopus 로고    scopus 로고
    • Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy
    • Curatolo, P., Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr. Neurol. 52 (2015), 281–289.
    • (2015) Pediatr. Neurol. , vol.52 , pp. 281-289
    • Curatolo, P.1
  • 10
    • 84925674581 scopus 로고    scopus 로고
    • Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
    • D'Gama, A.M., et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann. Neurol. 77 (2015), 720–725.
    • (2015) Ann. Neurol. , vol.77 , pp. 720-725
    • D'Gama, A.M.1
  • 11
    • 84878352545 scopus 로고    scopus 로고
    • Mutations in DEPDC5 cause familial focal epilepsy with variable foci
    • Dibbens, L.M., et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat. Genet. 45 (2013), 546–551.
    • (2013) Nat. Genet. , vol.45 , pp. 546-551
    • Dibbens, L.M.1
  • 12
    • 84932183545 scopus 로고    scopus 로고
    • SEA you later alli-GATOR—a dynamic regulator of the TORC1 stress response pathway
    • Dokudovskaya, S., Rout, M.P., SEA you later alli-GATOR—a dynamic regulator of the TORC1 stress response pathway. J. Cell Sci. 128 (2015), 2219–2228.
    • (2015) J. Cell Sci. , vol.128 , pp. 2219-2228
    • Dokudovskaya, S.1    Rout, M.P.2
  • 13
    • 84937512734 scopus 로고    scopus 로고
    • Regulation of hematopoiesis and methionine homeostasis by mTORC1 inhibitor NPRL2
    • Dutchak, P.A., et al. Regulation of hematopoiesis and methionine homeostasis by mTORC1 inhibitor NPRL2. Cell Rep. 12 (2015), 371–379.
    • (2015) Cell Rep. , vol.12 , pp. 371-379
    • Dutchak, P.A.1
  • 14
    • 84893657126 scopus 로고    scopus 로고
    • Brain somatic mutations: the dark matter of psychiatric genetics?
    • Insel, T.R., Brain somatic mutations: the dark matter of psychiatric genetics?. Mol. Psychiatry 19 (2014), 156–158.
    • (2014) Mol. Psychiatry , vol.19 , pp. 156-158
    • Insel, T.R.1
  • 15
    • 84878366242 scopus 로고    scopus 로고
    • Mutations of DEPDC5 cause autosomal dominant focal epilepsies
    • Ishida, S., et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat. Genet. 45 (2013), 552–555.
    • (2013) Nat. Genet. , vol.45 , pp. 552-555
    • Ishida, S.1
  • 16
    • 84907313347 scopus 로고    scopus 로고
    • Somatic mutations in cerebral cortical malformations
    • Jamuar, S.S., et al. Somatic mutations in cerebral cortical malformations. N. Engl. J. Med. 371 (2014), 733–743.
    • (2014) N. Engl. J. Med. , vol.371 , pp. 733-743
    • Jamuar, S.S.1
  • 17
    • 84960424563 scopus 로고    scopus 로고
    • Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3
    • Korenke, G.C., et al. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia 57 (2016), e60–e63.
    • (2016) Epilepsia , vol.57 , pp. e60-e63
    • Korenke, G.C.1
  • 18
    • 84865125882 scopus 로고    scopus 로고
    • Nprl3 is required for normal development of the cardiovascular system
    • Kowalczyk, M.S., et al. Nprl3 is required for normal development of the cardiovascular system. Mamm. Genome 23 (2012), 404–415.
    • (2012) Mamm. Genome , vol.23 , pp. 404-415
    • Kowalczyk, M.S.1
  • 19
    • 84902273128 scopus 로고    scopus 로고
    • DEPDC5 mutations in genetic focal epilepsies of childhood
    • Lal, D., et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann. Neurol. 75 (2014), 788–792.
    • (2014) Ann. Neurol. , vol.75 , pp. 788-792
    • Lal, D.1
  • 20
    • 84859778293 scopus 로고    scopus 로고
    • mTOR signaling in growth control and disease
    • Laplante, M., Sabatini, D.M., mTOR signaling in growth control and disease. Cell 149 (2012), 274–293.
    • (2012) Cell , vol.149 , pp. 274-293
    • Laplante, M.1    Sabatini, D.M.2
  • 21
    • 84920141663 scopus 로고    scopus 로고
    • Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
    • Lasarge, C.L., Danzer, S.C., Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Front. Mol. Neurosci., 7, 2014, 18.
    • (2014) Front. Mol. Neurosci. , vol.7 , pp. 18
    • Lasarge, C.L.1    Danzer, S.C.2
  • 22
    • 84884171372 scopus 로고    scopus 로고
    • Focal malformations of cortical development: new vistas for molecular pathogenesis
    • Lim, K.C., Crino, P.B., Focal malformations of cortical development: new vistas for molecular pathogenesis. Neuroscience 252 (2013), 262–276.
    • (2013) Neuroscience , vol.252 , pp. 262-276
    • Lim, K.C.1    Crino, P.B.2
  • 23
    • 84931090578 scopus 로고    scopus 로고
    • Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
    • Lim, J.S., et al. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat. Med. 21 (2015), 395–400.
    • (2015) Nat. Med. , vol.21 , pp. 395-400
    • Lim, J.S.1
  • 24
    • 84958240587 scopus 로고    scopus 로고
    • Depdc5 knockout rat: a novel model of mTORopathy
    • Marsan, E., et al. Depdc5 knockout rat: a novel model of mTORopathy. Neurobiol. Dis. 89 (2016), 180–189.
    • (2016) Neurobiol. Dis. , vol.89 , pp. 180-189
    • Marsan, E.1
  • 25
    • 84937511052 scopus 로고    scopus 로고
    • A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population
    • Martin, C., et al. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. Clin. Genet. 86 (2014), 570–574.
    • (2014) Clin. Genet. , vol.86 , pp. 570-574
    • Martin, C.1
  • 26
    • 4844219873 scopus 로고    scopus 로고
    • Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis
    • Miyata, H., et al. Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis. Ann. Neurol. 56 (2004), 510–519.
    • (2004) Ann. Neurol. , vol.56 , pp. 510-519
    • Miyata, H.1
  • 27
    • 84939653040 scopus 로고    scopus 로고
    • Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb
    • Nakashima, M., et al. Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann. Neurol. 78 (2015), 375–386.
    • (2015) Ann. Neurol. , vol.78 , pp. 375-386
    • Nakashima, M.1
  • 28
    • 84974606213 scopus 로고    scopus 로고
    • Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation
    • Nascimento, F.A., et al. Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. Neurol. Genet., 1, 2015, e28.
    • (2015) Neurol. Genet. , vol.1 , pp. e28
    • Nascimento, F.A.1
  • 29
    • 84878353147 scopus 로고    scopus 로고
    • Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the rag family GTPase Gtr1
    • Panchaud, N., et al. Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the rag family GTPase Gtr1. Sci. Signal., 6, 2013, ra42.
    • (2013) Sci. Signal. , vol.6 , pp. ra42
    • Panchaud, N.1
  • 30
    • 84903974365 scopus 로고    scopus 로고
    • DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
    • Picard, F., et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology 82 (2014), 2101–2106.
    • (2014) Neurology , vol.82 , pp. 2101-2106
    • Picard, F.1
  • 31
    • 85046981886 scopus 로고    scopus 로고
    • Epilepsy with auditory features: a heterogeneous clinico-molecular disease
    • Pippucci, T., et al. Epilepsy with auditory features: a heterogeneous clinico-molecular disease. Neurol. Genet., 1, 2015, e5.
    • (2015) Neurol. Genet. , vol.1 , pp. e5
    • Pippucci, T.1
  • 32
    • 84879756120 scopus 로고    scopus 로고
    • Somatic mutation, genomic variation, and neurological disease
    • Poduri, A., et al. Somatic mutation, genomic variation, and neurological disease. Science, 341, 2013, 1237758.
    • (2013) Science , vol.341 , pp. 1237758
    • Poduri, A.1
  • 33
    • 84956574326 scopus 로고    scopus 로고
    • Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
    • Ricos, M.G., et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann. Neurol. 79 (2016), 120–131.
    • (2016) Ann. Neurol. , vol.79 , pp. 120-131
    • Ricos, M.G.1
  • 34
    • 84946721624 scopus 로고    scopus 로고
    • Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
    • Scerri, T., et al. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann. Clin. Transl. Neurol. 2 (2015), 575–580.
    • (2015) Ann. Clin. Transl. Neurol. , vol.2 , pp. 575-580
    • Scerri, T.1
  • 35
    • 84902281810 scopus 로고    scopus 로고
    • Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
    • Scheffer, I.E., et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann. Neurol. 75 (2014), 782–787.
    • (2014) Ann. Neurol. , vol.75 , pp. 782-787
    • Scheffer, I.E.1
  • 36
    • 84956578812 scopus 로고    scopus 로고
    • Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
    • Sim, J.C., et al. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Ann. Neurol. 79 (2016), 132–137.
    • (2016) Ann. Neurol. , vol.79 , pp. 132-137
    • Sim, J.C.1
  • 37
    • 68349117160 scopus 로고    scopus 로고
    • Focal cortical dysplasia type II: biological features and clinical perspectives
    • Sisodiya, S.M., et al. Focal cortical dysplasia type II: biological features and clinical perspectives. Lancet Neurol. 8 (2009), 830–843.
    • (2009) Lancet Neurol. , vol.8 , pp. 830-843
    • Sisodiya, S.M.1
  • 38
    • 84943181104 scopus 로고    scopus 로고
    • DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy
    • Striano, P., et al. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia 56 (2015), e168–e171.
    • (2015) Epilepsia , vol.56 , pp. e168-e171
    • Striano, P.1
  • 39
    • 84859780426 scopus 로고    scopus 로고
    • Sudden unexpected death in epilepsy: mechanisms, prevalence, and prevention
    • Surges, R., Sander, J.W., Sudden unexpected death in epilepsy: mechanisms, prevalence, and prevention. Curr. Opin. Neurol. 25 (2012), 201–207.
    • (2012) Curr. Opin. Neurol. , vol.25 , pp. 201-207
    • Surges, R.1    Sander, J.W.2
  • 40
    • 84922018584 scopus 로고    scopus 로고
    • Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy
    • van Kranenburg, M., et al. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. Hum. Mutat. 36 (2015), 200–209.
    • (2015) Hum. Mutat. , vol.36 , pp. 200-209
    • van Kranenburg, M.1
  • 41
    • 84969961778 scopus 로고    scopus 로고
    • Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
    • Weckhuysen, S., et al. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia, 2016, 10.1111/epi.13391.
    • (2016) Epilepsia
    • Weckhuysen, S.1


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