Clinical and genetic characteristics of patients with Doose syndrome

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...

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Detalles Bibliográficos
Autores principales: 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, Kato, Mitsuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469791/
https://www.ncbi.nlm.nih.gov/pubmed/32913952
http://dx.doi.org/10.1002/epi4.12417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469791/
https://www.ncbi.nlm.nih.gov/pubmed/32913952
http://dx.doi.org/10.1002/epi4.12417

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