메뉴 건너뛰기




Volumn 24, Issue 4, 2016, Pages 615-618

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Author keywords

[No Author keywords available]

Indexed keywords

COILED COIL DOMAIN CONTAINING 120 PROTEIN; GENOMIC DNA; LIPID; PROTEIN; UNCLASSIFIED DRUG; WD REPEAT 45 PROTEIN; CARRIER PROTEIN; WDR45 PROTEIN, HUMAN;

EID: 84960372961     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.159     Document Type: Article
Times cited : (35)

References (11)
  • 1
    • 79961146091 scopus 로고    scopus 로고
    • Genetics of neurodegeneration with brain iron accumulation
    • Gregory A, Hayflick SJ: Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11: 254-261
    • (2011) Curr Neurol Neurosci Rep , vol.11 , pp. 254-261
    • Gregory, A.1    Hayflick, S.J.2
  • 2
    • 84870913730 scopus 로고    scopus 로고
    • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
    • Haack TB, Hogarth P, Kruer MC et al: Exome sequencing reveals De novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91: 1144-1149
    • (2012) Am J Hum Genet , vol.91 , pp. 1144-1149
    • Haack, T.B.1    Hogarth, P.2    Kruer, M.C.3
  • 3
    • 84878841473 scopus 로고    scopus 로고
    • β-Propeller protein-Associated neurodegeneration: A new X-linked dominant disorder with brain iron accumulation
    • Hayflick SJ, Kruer MC, Gregory A et al: β-Propeller protein-Associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136: 1708-1717
    • (2013) Brain , vol.136 , pp. 1708-1717
    • Hayflick, S.J.1    Kruer, M.C.2    Gregory, A.3
  • 4
    • 84875757691 scopus 로고    scopus 로고
    • De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
    • Saitsu H, Nishimura T, Muramatsu K et al: De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45: 445-449
    • (2013) Nat Genet , vol.45 , pp. 445-449
    • Saitsu, H.1    Nishimura, T.2    Muramatsu, K.3
  • 5
    • 0035282612 scopus 로고    scopus 로고
    • Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18
    • Lin CI, Orlov I, Ruggiero AM et al: Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18. Nature 2001; 410: 84-88
    • (2001) Nature , vol.410 , pp. 84-88
    • Lin, C.I.1    Orlov, I.2    Ruggiero, A.M.3
  • 6
    • 84901458851 scopus 로고    scopus 로고
    • De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
    • Ohba C, Nabatame S, Iijima Y et al: De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. J Hum Genet 2014; 59: 292-295
    • (2014) J Hum Genet , vol.59 , pp. 292-295
    • Ohba, C.1    Nabatame, S.2    Iijima, Y.3
  • 7
    • 84555202524 scopus 로고    scopus 로고
    • Genes of early-onset epileptic encephalopathies: From genotype to phenotype
    • Mastrangelo M, Leuzzi V: Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012; 46: 24-31
    • (2012) Pediatr Neurol , vol.46 , pp. 24-31
    • Mastrangelo, M.1    Leuzzi, V.2
  • 8
    • 41949122637 scopus 로고    scopus 로고
    • Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1
    • Liu Y, Vidensky S, Ruggiero AM, Maier S, Sitte HH, Rothstein JD: Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1. J Biol Chem 2008; 283: 6561-6571
    • (2008) J Biol Chem , vol.283 , pp. 6561-6571
    • Liu, Y.1    Vidensky, S.2    Ruggiero, A.M.3    Maier, S.4    Sitte, H.H.5    Rothstein, J.D.6
  • 9
    • 0032860275 scopus 로고    scopus 로고
    • Glutamate receptors and transporters in genetic and acquired models of epilepsy
    • Meldrum BS, Akbar MT, Chapman AG: Glutamate receptors and transporters in genetic and acquired models of epilepsy. Epilepsy Res 1999; 36: 189-204
    • (1999) Epilepsy Res , vol.36 , pp. 189-204
    • Meldrum, B.S.1    Akbar, M.T.2    Chapman, A.G.3
  • 10
    • 41949104855 scopus 로고    scopus 로고
    • Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles
    • Koomoa D-LT, Go RCV, Wester K, Bachmann AS: Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles. Neurosci Lett 2008; 436: 171-176
    • (2008) Neurosci Lett , vol.436 , pp. 171-176
    • D-Lt, K.1    Rcv, G.2    Wester, K.3    Bachmann, A.S.4
  • 11
    • 84916918495 scopus 로고    scopus 로고
    • Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth
    • Torii T, Miyamoto Y, Tago K et al: Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth. J Biol Chem 2014; 289: 33887-33903
    • (2014) J Biol Chem , vol.289 , pp. 33887-33903
    • Torii, T.1    Miyamoto, Y.2    Tago, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.