Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Doose syndrome"'
Autor:
Jacopo Proietti, Elena Fiorini, Gaetano Cantalupo, Elena Fontana, Tommaso Lo Barco, Cecilia Bonin, Bernardo Dalla Bernardina, Francesca Darra
Publikováno v:
Heliyon, Vol 10, Iss 2, Pp e24747- (2024)
In epilepsy with myoclonic-atonic seizures (EMA), status epilepticus (SE) may occur during the onset phase, uncommonly in post-puberal patients. We report a post-puberal patient with EMA who presented SE with insidious onset and catamenial recurrence
Externí odkaz:
https://doaj.org/article/69b8e5bca7bb443296be3c410923e63c
Publikováno v:
Translation, Vol 11, Iss 2 (2023)
Introduction: Doose Syndrome is a myoclonic-atonic seizure disorder most prominent in the pediatric population. Several common genetic mutations have been identified. However, SUOX gene mutations have not yet been correlated with Doose Syndrome.
Externí odkaz:
https://doaj.org/article/97e9db4b12484079a7b2264d058ec5f2
Akademický článek
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Autor:
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Abstract 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
Externí odkaz:
https://doaj.org/article/17efe75a57e94761b422dbd148928d15
Akademický článek
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Akademický článek
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Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 5, Iss 3, Pp 24-33 (2016)
Abstract: myoclonic-atonic seizures (MAS) – short epileptic generalized seizures in the form of sudden falling spells (or drop attacks). Inour study were vealed MAS in 1.3% of all cases of epilepsy with onset of seizures before 18 years old (n=1261
Externí odkaz:
https://doaj.org/article/ee46dba0187b45369988554a8f369a77
Publikováno v:
Русский журнал детской неврологии, Vol 8, Iss 1, Pp 25-38 (2015)
The authors proposed a detailed review of literature devoted to myoclonic astatic epilepsy (Doose syndrome). The authors describe the history of study of myoclonic astatic epilepsy, its prevalence, etiology and the role of genetic factors, clinical p
Externí odkaz:
https://doaj.org/article/0915f87fbc264d928fcdd964b00850fc
Autor:
Pinelopi Dragoumi, Fiona Chivers, Megan Brady, Sheila Craft, David Mushati, Gopalakrishnan Venkatachalam, Judith Helen Cross, Krishna B. Das
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 5, Iss C, Pp 31-33 (2016)
An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myocl
Externí odkaz:
https://doaj.org/article/8d0ab0e7482c401586005616f4f776d3
Autor:
Kazuyuki Nakamura, Nodoka Hinokuma, Nobutsune Ishikawa, Koyo Ohno, Kazuhiro Iwama, Satoko Miyatake, Masataka Fukuoka, Naomichi Matsumoto, Kazuna Yamamoto, Masano Amamoto, Mariko Kasai, Tetsuhiro Fukuyama, Toshiyuki Itai, Shinjiro Akaboshi, Chikako Ogawa, Yohane Miyata, Pin Fee Chong, Hiroko Ikeda, Tomoe Shinagawa, Yuichi Abe, Mitsuhiro Kato, Kiyohito Okumiya, Shingo Oana, Shumpei Uchino, Kozue Kobayashi, Ryutaro Kira, Hideyuki Asai, Akira Hojo, Masami Togawa, Hirotomo Saitsu, Yoshihiro Maegaki, Mitsuko Nakashima, Takeshi Mizuguchi
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56692dc96e04da3882f5b505f74b2262
https://doi.org/10.1002/epi4.12417
https://doi.org/10.1002/epi4.12417