Clinical and genetic characteristics of patients with Doose syndrome
Clinical and genetic characteristics of patients with Doose syndrome
About this item
Full title
Author / Creator
Hinokuma, Nodoka , Nakashima, Mitsuko , Asai, Hideyuki , Nakamura, Kazuyuki , Akaboshi, Shinjiro , Fukuoka, Masataka , Togawa, Masami , Oana, Shingo , Ohno, Koyo , Kasai, Mariko , Ogawa, Chikako , Yamamoto, Kazuna , Okumiya, Kiyohito , Chong, Pin Fee , Kira, Ryutaro , Uchino, Shumpei , Fukuyama, Tetsuhiro , Shinagawa, Tomoe , Miyata, Yohane , Abe, Yuichi , Hojo, Akira , Kobayashi, Kozue , Maegaki, Yoshihiro , Ishikawa, Nobutsune , Ikeda, Hiroko , Amamoto, Masano , Mizuguchi, Takeshi , Iwama, Kazuhiro , Itai, Toshiyuki , Miyatake, Satoko , Saitsu, Hirotomo , Matsumoto, Naomichi and Kato, Mitsuhiro
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome.
Methods
We collected clinical information and blood samples from 29 patients with MAE. We performed whole‐exome sequencing for all except one MAE ca...
Alternative Titles
Full title
Clinical and genetic characteristics of patients with Doose syndrome
Authors, Artists and Contributors
Author / Creator
Nakashima, Mitsuko
Asai, Hideyuki
Nakamura, Kazuyuki
Akaboshi, Shinjiro
Fukuoka, Masataka
Togawa, Masami
Oana, Shingo
Ohno, Koyo
Kasai, Mariko
Ogawa, Chikako
Yamamoto, Kazuna
Okumiya, Kiyohito
Chong, Pin Fee
Kira, Ryutaro
Uchino, Shumpei
Fukuyama, Tetsuhiro
Shinagawa, Tomoe
Miyata, Yohane
Abe, Yuichi
Hojo, Akira
Kobayashi, Kozue
Maegaki, Yoshihiro
Ishikawa, Nobutsune
Ikeda, Hiroko
Amamoto, Masano
Mizuguchi, Takeshi
Iwama, Kazuhiro
Itai, Toshiyuki
Miyatake, Satoko
Saitsu, Hirotomo
Matsumoto, Naomichi
Kato, Mitsuhiro
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_17efe75a57e94761b422dbd148928d15
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_17efe75a57e94761b422dbd148928d15
Other Identifiers
ISSN
2470-9239
E-ISSN
2470-9239
DOI
10.1002/epi4.12417
