메뉴 건너뛰기




Volumn 55, Issue 11, 2014, Pages e116-e119

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder

Author keywords

FOXG1; Lennox Gastaut syndrome; Microcephaly

Indexed keywords

CLOBAZAM; DNA; ETIRACETAM; FELBAMATE; LAMOTRIGINE; RUFINAMIDE; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; NERVE PROTEIN;

EID: 84922337387     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12800     Document Type: Article
Times cited : (11)

References (14)
  • 1
    • 57249087382 scopus 로고    scopus 로고
    • Lennox-Gastaut syndrome: A consensus approach on diagnosis, assessment, management, and trial methodology
    • Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol 2009;8:82-93.
    • (2009) Lancet Neurol , vol.8 , pp. 82-93
    • Arzimanoglou, A.1    French, J.2    Blume, W.T.3
  • 2
    • 34249798175 scopus 로고    scopus 로고
    • Long-term prognosis for symptomatic (secondarily) generalized epilepsies: A population-based study
    • Camfield P, Camfield C. Long-term prognosis for symptomatic (secondarily) generalized epilepsies: a population-based study. Epilepsia 2007;48:1128-1132.
    • (2007) Epilepsia , vol.48 , pp. 1128-1132
    • Camfield, P.1    Camfield, C.2
  • 3
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-221.
    • (2013) Nature , vol.501 , pp. 217-221
  • 4
    • 79958061872 scopus 로고    scopus 로고
    • The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
    • Kortum F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011;48:396-406.
    • (2011) J Med Genet , vol.48 , pp. 396-406
    • Kortum, F.1    Das, S.2    Flindt, M.3
  • 5
    • 79951557954 scopus 로고    scopus 로고
    • A FOXG1 mutation in a boy with congenital variant of Rett syndrome
    • Le Guen T, Bahi-Buisson N, Nectoux J, et al. A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics 2011;12:1-8.
    • (2011) Neurogenetics , vol.12 , pp. 1-8
    • Le Guen, T.1    Bahi-Buisson, N.2    Nectoux, J.3
  • 6
    • 84878428269 scopus 로고    scopus 로고
    • Copy number variants in adult patients with Lennox-Gastaut syndrome features
    • Lunda C, Brodtkorbc E, Røsbye O, et al. Copy number variants in adult patients with Lennox-Gastaut syndrome features. Epilepsy Res 2013;105:110-117.
    • (2013) Epilepsy Res , vol.105 , pp. 110-117
    • Lunda, C.1    Brodtkorbc, E.2    Røsbye, O.3
  • 7
    • 1642498346 scopus 로고    scopus 로고
    • Lennox-Gastaut syndrome (childhood epileptic encephalopathy)
    • Markand ON. Lennox-Gastaut syndrome (childhood epileptic encephalopathy). J Clin Neurophysiol 2003;20:426-441.
    • (2003) J Clin Neurophysiol , vol.20 , pp. 426-441
    • Markand, O.N.1
  • 8
    • 0029009621 scopus 로고
    • Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres
    • Xuan S, Baptista CA, Balas G, et al. Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron 1995;14:1141-1152.
    • (1995) Neuron , vol.14 , pp. 1141-1152
    • Xuan, S.1    Baptista, C.A.2    Balas, G.3
  • 9
    • 34548387810 scopus 로고    scopus 로고
    • Disruption of Foxg1 expression by knock-in of cre recombinase: Effects on the development of the mouse telencephalon
    • Eagleson KL, Schlueter McFadyen-Ketchum LJ, Ahrens ET, et al. Disruption of Foxg1 expression by knock-in of cre recombinase: effects on the development of the mouse telencephalon. Neuroscience 2007;148:385-399.
    • (2007) Neuroscience , vol.148 , pp. 385-399
    • Eagleson, K.L.1    Schlueter McFadyen-Ketchum, L.J.2    Ahrens, E.T.3
  • 10
    • 84860130204 scopus 로고    scopus 로고
    • FOXG1-related disorders: From clinical description to molecular genetics
    • Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-related disorders: from clinical description to molecular genetics. Mol Syndromol 2011;2:153-163.
    • (2011) Mol Syndromol , vol.2 , pp. 153-163
    • Florian, C.1    Bahi-Buisson, N.2    Bienvenu, T.3
  • 11
    • 84875808234 scopus 로고    scopus 로고
    • Foxg1 coordinates the switch from nonradially to radially migrating glutamatergic subtypes in the neocortex through spatiotemporal repression
    • Kumamoto T, Toma K, Gunadi, et al. Foxg1 coordinates the switch from nonradially to radially migrating glutamatergic subtypes in the neocortex through spatiotemporal repression. Cell Rep 2013;28:931-945.
    • (2013) Cell Rep , vol.28 , pp. 931-945
    • Kumamoto, T.1    Gunadi, T.K.2
  • 12
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89-93.
    • (2008) Am J Hum Genet , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 13
    • 78650067986 scopus 로고    scopus 로고
    • Duplications of FOXG-1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    • Brunetti-Pierri N, Paciorkowski AR, Ciccone R, et al. Duplications of FOXG-1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2011;19:102-107.
    • (2011) Eur J Hum Genet , vol.19 , pp. 102-107
    • Brunetti-Pierri, N.1    Paciorkowski, A.R.2    Ciccone, R.3
  • 14
    • 79955642804 scopus 로고    scopus 로고
    • West syndrome associated with 14q12 duplications harboring FOXG1
    • Striano P, Paravidino R, Sicca F, et al. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 2011;76:1600-1602.
    • (2011) Neurology , vol.76 , pp. 1600-1602
    • Striano, P.1    Paravidino, R.2    Sicca, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.