RHEB/mTOR-hyperactivity causing cortical malformations drives seizures through increased axonal connectivity

Autor: Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, de Brito van Velze M, van Woerden Gm, Linda M. C. Koene, Martina Proietti Onori, Ype Elgersma

Dominant-active mutations inRas Homolog Enriched in Brain 1(RHEB), such as the recently identified RHEBp.P37L mutation, can cause malformations of cortical development (MCD) with associated epilepsy and intellectual disability through a yet unknown m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::be8fbf565f9d47d4cca947158b943be9
https://doi.org/10.1101/2020.07.08.189399

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model

Autor: Martina Proietti Onori, Ilse Wallaard, Annabel van Oort, Nathalie H. R. M. Kooijman, Ype Elgersma, Saskia E. van Grondelle, Linda M. C. Koene, Jadwiga Schreiber

Publikováno v: Annals of Clinical and Translational Neurology, 6(7), 1273-1291. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1273-1291 (2019)
Annals of Clinical and Translational Neurology

Objective An epilepsy mouse model for Tuberous Sclerosis Complex (TSC) was developed and validated to investigate the mechanisms underlying epileptogenesis. Furthermore, the possible antiepileptogenic properties of commonly used antiepileptic drugs (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a284908e7685de6348a0906222d1efad
https://pure.eur.nl/en/publications/47e571a9-4fd8-4c2c-a42a-810fb0a23c37

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

Autor: Rossella, Avagliano Trezza, Monica, Sonzogni, Stijn N V, Bossuyt, F Isabella, Zampeta, A Mattijs, Punt, Marlene, van den Berg, Diana C, Rotaru, Linda M C, Koene, Shashini T, Munshi, Jeffrey, Stedehouder, Johan M, Kros, Mark, Williams, Helen, Heussler, Femke M S, de Vrij, Edwin J, Mientjes, Geeske M, van Woerden, Steven A, Kushner, Ben, Distel, Ype, Elgersma

Publikováno v: Nature neuroscience. 22(8)

Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched in the nucleus of mouse and human neurons. We found that th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb3e5ddef64686f72a3f404d7c534333
https://pubmed.ncbi.nlm.nih.gov/31235931