Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Orna Epstein"'
Autor:
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
A member of the vacuolar H+-ATPase family, ATP6V0A1 is involved in lysosomal activity. Here, the authors report that ATP6V0A1 variants identified in individuals with developmental and epileptic encephalopathy are associated with impairment of lysosom
Externí odkaz:
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
Autor:
Shuji Takabayashi, Hiroki Mutoh, Naomichi Matsumoto, Mitsuhiro Kato, Takeshi Mizuguchi, Mitsuko Nakashima, Yasuhiko Ago, Revital Ben-Haim, Kazushi Aoto, Atsuo Fukuda, Kyoko Hoshino, Hirotomo Saitsu, Noriyuki Akasaka, Yoshiko Nomura, Noriko Miyake, Eli Heyman, Atsushi Takata, Hazrat Belal, Orna Epstein, Tenpei Akita, Takehiro Miyazaki, Jun Tohyama, Satoko Miyatake, Chihiro Ohba, Ryuta Tanaka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66b51633843a8fae49fd8c91a93dbd6
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
Autor:
Eli Heyman, Eli Lahat, Mirit Lazinger, Revital Gandelman-Marton, Orna Epstein, Matitiahu Berkovitch, Noa Levin
Publikováno v:
Developmental Medicine & Child Neurology. 59:441-444
Aim There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bd854236f1ef0249309a82e3796a4e
https://doi.org/10.1111/dmcn.13362
https://doi.org/10.1111/dmcn.13362
Autor:
Kazushi, Aoto, Mitsuhiro, Kato, Tenpei, Akita, Mitsuko, Nakashima, Hiroki, Mutoh, Noriyuki, Akasaka, Jun, Tohyama, Yoshiko, Nomura, Kyoko, Hoshino, Yasuhiko, Ago, Ryuta, Tanaka, Orna, Epstein, Revital, Ben-Haim, Eli, Heyman, Takehiro, Miyazaki, Hazrat, Belal, Shuji, Takabayashi, Chihiro, Ohba, Atsushi, Takata, Takeshi, Mizuguchi, Satoko, Miyatake, Noriko, Miyake, Atsuo, Fukuda, Naomichi, Matsumoto, Hirotomo, Saitsu
Publikováno v:
Nature Communications
Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::741d13345238d1e6f03e32f3f37cc28f
https://pubmed.ncbi.nlm.nih.gov/33833240
https://pubmed.ncbi.nlm.nih.gov/33833240
Autor:
Shimrit Uliel-Siboni, Eli Hyman, Dorit Granot, Tali Lerman-Sagie, Uri Kramer, Omer Bar Yosef, Michal Tzadok, Bruria Ben-Zeev, Andrea Nissenkorn, Shay Menascu, Ilan Linder, Orna Epstein, Michael Dor
Publikováno v:
Seizure. 35:41-44
Purpose To describe the experience of five Israeli pediatric epilepsy clinics treating children and adolescents diagnosed as having intractable epilepsy with a regimen of medical cannabis oil. Methods A retrospective study describing the effect of ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e792d8acf5eb0f9b030826913f7738
Autor:
Michael Field, Andreas Tzschach, Eric H. Kossoff, Kazuhiro Haginoya, Lubov Blumkin, Orna Epstein, David Geneviève, Sara Kivity, Marjolaine Willems, Ayelet Zerem, Cheryl Shoubridge, Elizabeth E. Palmer, Tjitske Kleefstra, Hirotomo Saitsu, Naomichi Matsumoto, David Chitayat, Amélie Piton, Jackie Boyle, Sarah Dugan, Dorit Lev, Tally Lerman-Sagie, Alice Masurel-Paulet, Ilan Linder, Eli Heyman, Esther Leshinsky-Silver, Frederic Tran-Mau-Them, Ryo Sato, Rolph Pfundt, William D. Gaillard
Publikováno v:
Epilepsia, 57, 1858-1869
Epilepsia, 57, 11, pp. 1858-1869
Epilepsia
Epilepsia, Wiley, 2016, 57 (11), pp.1858-1869. ⟨10.1111/epi.13560⟩
Epilepsia, 57, 11, pp. 1858-1869
Epilepsia
Epilepsia, Wiley, 2016, 57 (11), pp.1858-1869. ⟨10.1111/epi.13560⟩
Item does not contain fulltext OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f1485ae4c125f0429f9c045576f076
http://hdl.handle.net/2066/168221
http://hdl.handle.net/2066/168221
Publikováno v:
Hormone Research in Paediatrics. 75:362-366
Background and Objective: Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::571d360d5090e61aa6bd4ba117f3d497
https://doi.org/10.1159/000323441
https://doi.org/10.1159/000323441
Autor:
Michal, Tzadok, Shimrit, Uliel-Siboni, Ilan, Linder, Uri, Kramer, Orna, Epstein, Shay, Menascu, Andrea, Nissenkorn, Omer Bar, Yosef, Eli, Hyman, Dorit, Granot, Michael, Dor, Tali, Lerman-Sagie, Bruria, Ben-Zeev
Publikováno v:
Seizure. 35
To describe the experience of five Israeli pediatric epilepsy clinics treating children and adolescents diagnosed as having intractable epilepsy with a regimen of medical cannabis oil.A retrospective study describing the effect of cannabidiol (CBD)-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c68751dd71175d7c8b1ddc742457db1
https://pubmed.ncbi.nlm.nih.gov/26800377
https://pubmed.ncbi.nlm.nih.gov/26800377
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(6)
Background Despite the introduction of multiple new antiepileptic drugs in the past two decades, many patients with epilepsy continue to experience uncontrolled seizures or significant side effects. Aim To present our experience with felbamate therap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42850d3891a4243e5d0942cfd5cb1132
https://pubmed.ncbi.nlm.nih.gov/24906615
https://pubmed.ncbi.nlm.nih.gov/24906615
Publikováno v:
Harefuah. 152(1)
Epilepsy is quite a common disorder in the child and adolescent population, and it has been studied for many years. Recently, a better understanding has been achieved regarding the comorbidities in epilepsy, including: major depression, anxiety, lear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1116efd37d71219480467e6e0ea069b9
https://pubmed.ncbi.nlm.nih.gov/23461027
https://pubmed.ncbi.nlm.nih.gov/23461027