메뉴 건너뛰기




Volumn 53, Issue 8, 2016, Pages 511-522

Erratum: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (Journal of Medical Genetics (2016) 53, (511-22) DOI: 10.1136/jmedgenet-2015-103451);Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

(60)  Mignot, Cyril a,b,c   von Stülpnage, Celina a,d,e   Nava, Caroline a,c   Ville, Dorothée f   Sanlaville, Damien f,g,h   Lesca, Gaetan f,g,h   Rastetter, Agnès c   Gachet, Benoit c   Marie, Yannick c   Korenke, G Christoph i   Borggraefe, Ingo j   Hoffmann Zacharska, Dorota k   Szczepanik, Elzbieta k   Rudzka Dybala, Mariola k   Yiş, Uluç l   Çağlayan, Hande m   Isapof, Arnaud n   Marey, Isabelle a   Panagiotakaki, Eleni o   Korff, Christian p   more..


Author keywords

[No Author keywords available]

Indexed keywords

VALPROIC ACID;

EID: 84981333011     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103451corr1     Document Type: Erratum
Times cited : (134)

References (39)
  • 1
    • 0032055396 scopus 로고    scopus 로고
    • SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family
    • Kim JH, Liao D, Lau LF, Huganir RL. SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family. Neuron 1998;20:683-91.
    • (1998) Neuron , vol.20 , pp. 683-691
    • Kim, J.H.1    Liao, D.2    Lau, L.F.3    Huganir, R.L.4
  • 2
    • 0032078872 scopus 로고    scopus 로고
    • A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II
    • Chen HJ, Rojas-Soto M, Oguni A, Kennedy MB. A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II. Neuron 1998;20:895-904.
    • (1998) Neuron , vol.20 , pp. 895-904
    • Chen, H.J.1    Rojas-Soto, M.2    Oguni, A.3    Kennedy, M.B.4
  • 3
    • 4143133173 scopus 로고    scopus 로고
    • SynGAP-MUPP1- CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation
    • Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham DE. SynGAP-MUPP1- CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. Neuron 2004;43:563-74.
    • (2004) Neuron , vol.43 , pp. 563-574
    • Krapivinsky, G.1    Medina, I.2    Krapivinsky, L.3    Gapon, S.4    Clapham, D.E.5
  • 6
    • 0037442509 scopus 로고    scopus 로고
    • The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity
    • Kim JH, Lee HK, Takamiya K, Huganir RL. The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity. J Neurosci 2003;23:1119-24.
    • (2003) J Neurosci , vol.23 , pp. 1119-1124
    • Kim, J.H.1    Lee, H.K.2    Takamiya, K.3    Huganir, R.L.4
  • 7
    • 67349261457 scopus 로고    scopus 로고
    • Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of Schizophrenia
    • Guo X, Hamilton PJ, Reish NJ, Sweatt JD, Miller CA, Rumbaugh G. Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of Schizophrenia. Neuropsychopharmacology 2009;34:1659-72.
    • (2009) Neuropsychopharmacology , vol.34 , pp. 1659-1672
    • Guo, X.1    Hamilton, P.J.2    Reish, N.J.3    Sweatt, J.D.4    Miller, C.A.5    Rumbaugh, G.6
  • 8
    • 75749136071 scopus 로고    scopus 로고
    • Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP
    • Muhia M, Yee BK, Feldon J, Markopoulos F, Knuesel I. Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP. Eur J Neurosci 2010;31:529-43.
    • (2010) Eur J Neurosci , vol.31 , pp. 529-543
    • Muhia, M.1    Yee, B.K.2    Feldon, J.3    Markopoulos, F.4    Knuesel, I.5
  • 25
    • 84924666082 scopus 로고    scopus 로고
    • Large-scale discovery of novel genetic causes of developmental disorders
    • Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015;519:223-8.
    • (2015) Nature , vol.519 , pp. 223-228
  • 26
    • 82955247661 scopus 로고    scopus 로고
    • A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
    • Klitten LL, Møller RS, Nikanorova M, Silahtaroglu A, Hjalgrim H, Tommerup N. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). Epilepsia 2011;52:e190-3.
    • (2011) Epilepsia , vol.52 , pp. e190-e203
    • Klitten, L.L.1    Møller, R.S.2    Nikanorova, M.3    Silahtaroglu, A.4    Hjalgrim, H.5    Tommerup, N.6
  • 27
    • 77956125807 scopus 로고    scopus 로고
    • A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
    • Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. Am J Med Genet A 2010;152A:2376-8.
    • (2010) Am J Med Genet A , vol.152A , pp. 2376-2378
    • Krepischi, A.C.1    Rosenberg, C.2    Costa, S.S.3    Crolla, J.A.4    Huang, S.5    Vianna-Morgante, A.M.6
  • 28
    • 78651399021 scopus 로고    scopus 로고
    • Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
    • Zollino M, Gurrieri F, Orteschi D, Marangi G, Leuzzi V, Neri G. Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. Eur J Hum Genet 2011;19:239-42.
    • (2011) Eur J Hum Genet , vol.19 , pp. 239-242
    • Zollino, M.1    Gurrieri, F.2    Orteschi, D.3    Marangi, G.4    Leuzzi, V.5    Neri, G.6
  • 29
    • 84879461420 scopus 로고    scopus 로고
    • 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment
    • Writzl K, Knegt AC. 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. Am J Med Genet A 2013;161A:1682-5.
    • (2013) Am J Med Genet A , vol.161A , pp. 1682-1685
    • Writzl, K.1    Knegt, A.C.2
  • 32
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010;26:589-95.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 35
    • 0029014337 scopus 로고
    • First seizures associated with playing electronic screen games: a community-based study in Great Britain
    • Quirk JA, Fish DR, Smith SJ, Sander JW, Shorvon SD, Allen PJ. First seizures associated with playing electronic screen games: a community-based study in Great Britain. Ann Neurol 1995;37:733-7.
    • (1995) Ann Neurol , vol.37 , pp. 733-777
    • Quirk, J.A.1    Fish, D.R.2    Smith, S.J.3    Sander, J.W.4    Shorvon, S.D.5    Allen, P.J.6
  • 37
    • 84872593582 scopus 로고    scopus 로고
    • Activity-dependent neuronal signalling and autism spectrum disorder
    • Ebert DH, Greenberg ME. Activity-dependent neuronal signalling and autism spectrum disorder. Nature 2013;493:327-37.
    • (2013) Nature , vol.493 , pp. 327-337
    • Ebert, D.H.1    Greenberg, M.E.2
  • 38
    • 84981310730 scopus 로고    scopus 로고
    • Autism as the early closure of a neuroplastic critical period normally seen in adolescence
    • Berger JM, Rohn TT, Oxford JT. Autism as the early closure of a neuroplastic critical period normally seen in adolescence. Biol Syst Open Access 2013;1:1-15.
    • (2013) Biol Syst Open Access , vol.1 , pp. 1-15
    • Berger, J.M.1    Rohn, T.T.2    Oxford, J.T.3
  • 39
    • 84924049354 scopus 로고    scopus 로고
    • Sensitive and critical periods during neurotypical and aberrant neurodevelopment: a framework for neurodevelopmental disorders
    • Meredith RM. Sensitive and critical periods during neurotypical and aberrant neurodevelopment: a framework for neurodevelopmental disorders. Neurosci Biobehav Rev 2015;50:180-8.
    • (2015) Neurosci Biobehav Rev , vol.50 , pp. 180-188
    • Meredith, R.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.