WordNet
- a violent disturbance; "the convulsions of the stock market" (同)turmoil, upheaval
- violent uncontrollable contractions of muscles
- a physical disturbance such as an earthquake or upheaval
- not dangerous to health; not recurrent or progressive (especially of a tumor)
- pleasant and beneficial in nature or influence; "a benign smile"; "the benign sky"; "the benign influence of pure air" (同)benignant
- kindness of disposition or manner; "the benign ruler of millions"; "benign intentions"
- relating to or affecting the infant during the first month after birth; "neonatal care"; "the neonatal period"
PrepTutorEJDIC
- 《複数形で》けいれん,ひきつけ / 《複数形で》とめどもない大笑い / 震動,激動;動乱
- (心・表情などが)親切な,優しい / (事情・環境・気候などが)好適な,好都合な / 悪性でない
- 新生児の
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- 1. 新生児てんかん症候群 neonatal epileptic syndromes
- 2. 新生児痙攣の病因および予後 etiology and prognosis of neonatal seizures
English Journal
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
- Marini C, Conti V, Mei D, Battaglia D, Lettori D, Losito E, Bruccini G, Tortorella G, Guerrini R.SourceFrom the Pediatric Neurology and Neurogenetics Unit and Laboratories (C.M., V.C., D.M., R.G.), A. Meyer Children's Hospital-University of Florence, Florence; Pediatric Neurology Unit (D.B., D.L., E.L.), Catholic University, Rome; Child Neuropsychiatry Unit (G.B., G.T.), Policlinico Universitario di Messina, Messina; and IRCCS Stella Maris (R.G.), Pisa, Italy.
- Neurology.Neurology.2012 Nov 20;79(21):2109-14. doi: 10.1212/WNL.0b013e3182752ca2. Epub 2012 Oct 17.
- OBJECTIVE: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cos
- PMID 23077026
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
- Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM.SourceFrom the Florey Neuroscience Institutes (I.E.S.), Melbourne; Department of Medicine (I.E.S., B.E.G., S.F.B), The University of Melbourne, Melbourne Brain Centre, Austin Health, Heidelberg; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Melbourne; Epilepsy Research Program (S.E.H., X.I., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia; Schneider Children's Medical Center of Israel (S.K., H.G-S.), Petach Tikvah; Sackler Faculty of Medicine (Z.A.), Tel-Aviv University, Tel-Aviv, Israel; Department of Paediatric Neurology (M.K.), Chelsea and Westminster Hospital Foundation Trust, Imperial College, London, UK; Department of Neurology (I.A.), Sydney Children's Hospital, Sydney, Australia; IRCCS Stella Maris Foundation Pisa (R.G.), Pisa; Child Neurology Unit and Laboratories (C.M.), Pediatric Hospital A. Meyer, University of Florence, Florence, Italy; and Department of Paediatrics (L.G.S.), University of Otago, Wellington, New Zealand.
- Neurology.Neurology.2012 Nov 20;79(21):2104-2108. Epub 2012 Oct 17.
- OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families
- PMID 23077018
Japanese Journal
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Ono Shinji,Yoshiura Koh-ichiro,Kinoshita Akira [他],KIKUCHI Taeko,NAKANE Yoshibumi,KATO Nobumasa,SADAMATSU Miyuki,KONISHI Tohru,NAGAMITSU Shinichiro,MATSUURA Masato,YASUDA Ayako,KOMINE Maki,KANAI Kazuaki,INOUE Takeshi,OSAMURA Toshio,SAITO Kayoko,HIROSE Shinichi,KOIDE Hiroyoshi,TOMITA Hiroaki,OZAWA Hiroki,NIIKAWA Norio,KUROTAKI Naohiro
- Journal of human genetics 57(5), 338-341, 2012-05-01
- NAID 10030663240
- 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
- サデワ アフマド・ハミム,SASONGKO Teguh H.,Gunadi,LEE Myeong J.,DAIKOKU Kazunari,YAMAMOTO Akiyo,YAMASAKI Takemi,TANAKA Shigenori,MATSUO Masafumi,NISHIO Hisahide
- Pediatrics international : official journal of the Japan Pediatric Society 50(2), 167-171, 2008-04-01
- NAID 10021947309
- Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion
- SADEWA AH
- Pediatr. Int. 50, 167-171, 2008
- NAID 50006772181
Related Links
- Acronym Definition BNFC British National Formulary for Children (UK) BNFC British National Film Catalogue (UK) BNFC Benign Neonatal Familial Convulsion (epilepsy) ... Disclaimer All content on this website, including dictionary ...
- Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in KCNQ2 and KCNQ3, two genes encoding for potassium channel subunits. A large family with nine members affected by ...
Related Pictures
★リンクテーブル★
| リンク元 | 「benign familial neonatal convulsion」「良性新生児痙攣」「benign neonatal epilepsy」「良性新生児けいれん」 |
| 関連記事 | 「convulsion」「neonatal」「benign」 |
「benign familial neonatal convulsion」
良性家族性新生児痙攣、良性家族性新生児けいれん、家族性良性新生児痙攣
「良性新生児痙攣」
「benign neonatal epilepsy」
「良性新生児けいれん」
「convulsion」
- n.
- 関
- clonic seizure、convulse、convulsive、convulsive seizure、cramp、focal seizure、generalized seizure、Jacksonian seizure、jerk、motor seizure、seizure、sensory seizure、somatosensory seizure、spasm、spasticity、tonic seizure、tonic-clonic seizure
「neonatal」
- adj.
- 新生児の、新生仔の、新生児期の
「benign」
- adj.
- 良性の、穏和な