Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2041-1723
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy ; volume:10 ; number:1 ; day:7 ; month:6 ; year:2019 ; pages:1-14 ; date:12.2019
Nature Communications ; 10, Heft 1 (7.6.2019), 1-14, 12.2019
- Creator
-
Takata, Atsushi
Nakashima, Mitsuko
Saitsu, Hirotomo
Mizuguchi, Takeshi
Mitsuhashi, Satomi
Takahashi, Yukitoshi
Okamoto, Nobuhiko
Osaka, Hitoshi
Nakamura, Kazuyuki
Tohyama, Jun
Haginoya, Kazuhiro
Takeshita, Saoko
Kuki, Ichiro
Okanishi, Tohru
Goto, Tomohide
Sasaki, Masayuki
Sakai, Yasunari
Miyake, Noriko
Miyatake, Satoko
Tsuchida, Naomi
Iwama, Kazuhiro
Minase, Gaku
Sekiguchi, Futoshi
Fujita, Atsushi
Imagawa, Eri
Koshimizu, Eriko
Uchiyama, Yuri
Hamanaka, Kohei
Ohba, Chihiro
Itai, Toshiyuki
Aoi, Hiromi
Saida, Ken
Sakaguchi, Tomohiro
Den, Kouhei
Takahashi, Rina
Ikeda, Hiroko
Yamaguchi, Tokito
Tsukamoto, Kazuki
Yoshitomi, Shinsaku
Oboshi, Taikan
Imai, Katsumi
Kimizu, Tomokazu
Kobayashi, Yu
Kubota, Masaya
Kashii, Hirofumi
Baba, Shimpei
Iai, Mizue
Kira, Ryutaro
Hara, Munetsugu
Ohta, Masayasu
Miyata, Yohane
Miyata, Rie
Takanashi, Jun-ichi
Matsui, Jun
Yokochi, Kenji
Shimono, Masayuki
Amamoto, Masano
Takayama, Rumiko
Hirabayashi, Shinichi
Aiba, Kaori
Matsumoto, Hiroshi
Nabatame, Shin
Shiihara, Takashi
Kato, Mitsuhiro
Matsumoto, Naomichi
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41467-019-10482-9
- URN
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urn:nbn:de:101:1-2019092010580406580593
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:28 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Takata, Atsushi
- Nakashima, Mitsuko
- Saitsu, Hirotomo
- Mizuguchi, Takeshi
- Mitsuhashi, Satomi
- Takahashi, Yukitoshi
- Okamoto, Nobuhiko
- Osaka, Hitoshi
- Nakamura, Kazuyuki
- Tohyama, Jun
- Haginoya, Kazuhiro
- Takeshita, Saoko
- Kuki, Ichiro
- Okanishi, Tohru
- Goto, Tomohide
- Sasaki, Masayuki
- Sakai, Yasunari
- Miyake, Noriko
- Miyatake, Satoko
- Tsuchida, Naomi
- Iwama, Kazuhiro
- Minase, Gaku
- Sekiguchi, Futoshi
- Fujita, Atsushi
- Imagawa, Eri
- Koshimizu, Eriko
- Uchiyama, Yuri
- Hamanaka, Kohei
- Ohba, Chihiro
- Itai, Toshiyuki
- Aoi, Hiromi
- Saida, Ken
- Sakaguchi, Tomohiro
- Den, Kouhei
- Takahashi, Rina
- Ikeda, Hiroko
- Yamaguchi, Tokito
- Tsukamoto, Kazuki
- Yoshitomi, Shinsaku
- Oboshi, Taikan
- Imai, Katsumi
- Kimizu, Tomokazu
- Kobayashi, Yu
- Kubota, Masaya
- Kashii, Hirofumi
- Baba, Shimpei
- Iai, Mizue
- Kira, Ryutaro
- Hara, Munetsugu
- Ohta, Masayasu
- Miyata, Yohane
- Miyata, Rie
- Takanashi, Jun-ichi
- Matsui, Jun
- Yokochi, Kenji
- Shimono, Masayuki
- Amamoto, Masano
- Takayama, Rumiko
- Hirabayashi, Shinichi
- Aiba, Kaori
- Matsumoto, Hiroshi
- Nabatame, Shin
- Shiihara, Takashi
- Kato, Mitsuhiro
- Matsumoto, Naomichi
- SpringerLink (Online service)
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Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report
Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
Genetic testing in adults with developmental and epileptic encephalopathy – what do we know?
Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report
Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
Genetic testing in adults with developmental and epileptic encephalopathy – what do we know?
Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy