Wavetek 131A Bedienungsanleitung Seite 14

  • Herunterladen
  • Zu meinen Handbüchern hinzufügen
  • Drucken
  • Seite
    / 14
  • Inhaltsverzeichnis
  • LESEZEICHEN
  • Bewertet. / 5. Basierend auf Kundenbewertungen
Seitenansicht 13
Di Bonaventura C, Carni M, Diani E, Fattouch J, Vaudano EA, Egeo G,
et al. Drug resistant ADLTE and recurrent partial status epilepticus with
dysphasic features in a family with a novel LGI1 mutation: electrocli-
nical, genetic, and EEG/fMRI findings. Epilepsia 2009; 50: 2481–6.
Dudek FE, Sutula TP. Epileptogenesis in the dentate gyrus: a critical
perspective. Prog Brain Res 2007; 163: 755–73.
Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M.
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate
synaptic transmission. Science 2006; 313: 1792–5.
Fukata Y, Lovero KL, Iwanaga T, Watanabe A, Yokoi N, Tabuchi K, et al.
Disruption of LGI1-linked synaptic complex causes abnormal synaptic
transmission and epilepsy. Proc Natl Acad Sci USA 2010; 107:
3799–804.
Furlan S, Roncaroli F, Forner F, Vitiello L, Calabria E, Piquer-Sirerol S,
et al. The LGI1/epitempin gene encodes two protein isoforms differ-
entially expressed in human brain. J Neurochem 2006; 98: 985–91.
Head K, Gong S, Joseph S, Wang C, Burkhardt T, Rossi MR, et al.
Defining the expression pattern of the LGI1 gene in BAC transgenic
mice. Mamm Genome 2007; 18: 328–37.
Herranz-Perez V, Olucha-Bordonau FE, Morante-Redolat JM, Perez-
Tur J. Regional distribution of the leucine-rich glioma inactivated
(LGI) gene family transcripts in the adult mouse brain. Brain Res
2010; 1307: 177–94.
Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C,
Martinelli Boneschi F, et al. Mutations in LGI1 cause autosomal-domi-
nant partial epilepsy with auditory features. Nat Genet 2002; 30:
335–41.
Kunapuli P, Jang GF, Kazim L, Cowell JK. Mass spectrometry identifies
LGI1-interacting proteins that are involved in synaptic vesicle function
in the human brain. J Mol Neurosci 2009; 39: 137–43.
Lallemand Y, Luria V, Haffner-Krausz R, Lonai P. Maternally expressed
PGK-Cre transgene as a tool for early and uniform activation of the
Cre site-specific recombinase. Transgenic Res 1998; 7: 105–12.
Michelucci R, Pasini E, Nobile C. Lateral temporal lobe epilepsies: clinical
and genetic features. Epilepsia 2009; 50 (Suppl 5): 52–4.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A,
Poza JJ, Galan J, et al. Mutations in the LGI1/Epitempin gene on
10q24 cause autosomal dominant lateral temporal epilepsy.
Hum Mol Genet 2002; 11: 1119–28.
Navarro V, Martinerie J, Le Van Quyen M, Clemenceau S, Adam C,
Baulac M, et al. Seizure anticipation in human neocortical partial epi-
lepsy. Brain 2002; 125: 640–55.
Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P.
LGI1 mutations in autosomal dominant and sporadic lateral temporal
epilepsy. Hum Mutat 2009; 30: 530–6.
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, et al.
Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory inter-
neurons: a circuit basis for epileptic seizures in mice carrying an
Scn1a gene mutation. J Neurosci 2007; 27: 5903–14.
Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC,
Pedley TA, et al. LGI1 mutations in autosomal dominant partial epi-
lepsy with auditory features. Neurology 2004; 62: 1120–6.
Owuor K, Harel NY, Englot DJ, Hisama F, Blumenfeld H, Strittmatter SM.
LGI1-associated epilepsy through altered ADAM23-dependent neuro-
nal morphology. Mol Cell Neurosci 2009; 42: 44857.
Palmiter RD, Cole TB, Quaife CJ, Findley SD. ZnT-3, a putative trans-
porter of zinc into synaptic vesicles. Proc Natl Acad Sci USA 1996; 93:
14934–9.
Poza JJ, Saenz A, Martinez-Gil A, Cheron N, Cobo AM, Urtasun M, et al.
Autosomal dominant lateral temporal epilepsy: clinical and genetic
study of a large Basque pedigree linked to chromosome 10q.
Ann Neurol 1999; 45: 182–8.
Ribeiro PA, Sbragia L, Gilioli R, Langone F, Conte FF, Lopes-Cendes I.
Expression profile of lgi1 gene in mouse brain during development.
J Mol Neurosci 2008; 35: 323–9.
Sagane K, Ishihama Y, Sugimoto H. LGI1 and LGI4 bind to ADAM22,
ADAM23 and ADAM11. Int J Biol Sci 2008; 4: 387–96.
Scheel H, Tomiuk S, Hofmann K. A common protein interaction domain
links two recently identified epilepsy genes. Hum Mol Genet 2002; 11:
1757–62.
Schmued LC, Stowers CC, Scallet AC, Xu L. Fluoro-Jade C results in ultra
high resolution and contrast labeling of degenerating neurons. Brain
Res 2005; 1035: 24–31.
Schulte U, Thumfart JO, Klocker N, Sailer CA, Bildl W, Biniossek M, et al.
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1
channels and inhibits inactivation by Kvbeta1. Neuron 2006; 49:
697–706.
Senechal KR, Thaller C, Noebels JL. ADPEAF mutations reduce levels of
secreted LGI1, a putative tumor suppressor protein linked to epilepsy.
Hum Mol Genet 2005; 14: 1613–20.
Seyfried TN, Todorova MT, Poderycki MJ. Experimental models of multi-
factorial epilepsies: the EL mouse and mice susceptible to audiogenic
seizures. Adv Neurol 1999; 79: 279–90.
Sirerol-Piquer MS, Ayerdi-Izquierdo A, Morante-Redolat JM, Herranz-
Perez V, Favell K, Barker PA, et al. The epilepsy gene LGI1 encodes
a secreted glycoprotein that binds to the cell surface. Hum Mol Genet
2006; 15: 3436–45.
Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptacek LJ. A novel
gene causing a mendelian audiogenic mouse epilepsy. Neuron 2001;
31: 537–44.
Striano P, de Falco A, Diani E, Bovo G, Furlan S, Vitiello L, et al. A novel
loss-of-function LGI1 mutation linked to autosomal dominant lateral
temporal epilepsy. Arch Neurol 2008; 65: 939–42.
Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J,
Mekios C, et al. Four new families with autosomal dominant partial
epilepsy with auditory features: clinical description and linkage to
chromosome 10q24. Epilepsia 2002; 43: 60–7.
Winawer MR, Ottman R, Hauser WA, Pedley TA. Autosomal dominant
partial epilepsy with auditory features: defining the phenotype.
Neurology 2000; 54: 2173–6.
Yagi H, Takamura Y, Yoneda T, Konno D, Akagi Y, Yoshida K, et al.
Vlgr1 knockout mice show audiogenic seizure susceptibility.
J Neurochem 2005; 92: 191–202.
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F,
Burton KA, et al. Reduced sodium current in GABAergic interneurons
in a mouse model of severe myoclonic epilepsy in infancy. Nat
Neurosci 2006; 9: 1142–9.
Yu YE, Wen L, Silva J, Li Z, Head K, Sossey-Alaoui K, et al. Lgi1 null
mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcit-
ability. Hum Mol Genet 2010; 19: 1702–11.
Zhou YD, Lee S, Jin Z, Wright M, Smith SE, Anderson MP. Arrested
maturation of excitatory synapses in autosomal dominant lateral tem-
poral lobe epilepsy. Nat Med 2009; 15: 1208–14.
2762 | Brain 2010: 133; 2749–2762 E. Chabrol et al.
by guest on May 15, 2015Downloaded from
Seitenansicht 13
1 2 ... 9 10 11 12 13 14

Kommentare zu diesen Handbüchern

Keine Kommentare