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
- 関
- benign neonatal convulsion、benign neonatal epilepsy
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 having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- 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
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- 新生児の
UpToDate Contents
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English Journal
- Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
- Kato T1, Morisada N2, Nagase H3, Nishiyama M1, Toyoshima D1, Nakagawa T1, Maruyama A3, Fu XJ1, Nozu K1, Wada H4, Takada S5, Iijima K1.
- Brain & development.Brain Dev.2015 Oct;37(9):911-5. doi: 10.1016/j.braindev.2015.03.002. Epub 2015 Mar 27.
- INTRODUCTION: CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome. We describe a 5-year-old Japanese boy with intractable epilepsy, severe developmental delay, and Rett syndrome-like fea
- PMID 25819767
- Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.
- Ambrosino P1, Alaimo A2, Bartollino S1, Manocchio L1, De Maria M1, Mosca I1, Gomis-Perez C2, Alberdi A2, Scambia G3, Lesca G4, Villarroel A2, Taglialatela M5, Soldovieri MV1.
- Biochimica et biophysica acta.Biochim Biophys Acta.2015 Sep;1852(9):1856-66. doi: 10.1016/j.bbadis.2015.06.012. Epub 2015 Jun 12.
- Mutations in the KCNQ2 gene, encoding for voltage-gated Kv7.2K(+) channel subunits, are responsible for early-onset epileptic diseases with widely-diverging phenotypic presentation, ranging from Benign Familial Neonatal Seizures (BFNS) to epileptic encephalopathy. In the present study, Kv7.2 BFNS-ca
- PMID 26073431
- Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
- Grinton BE1, Heron SE2,3, Pelekanos JT1,4,5, Zuberi SM6, Kivity S7, Afawi Z8, Williams TC9, Casalaz DM10, Yendle S1, Linder I11,12,13, Lev D12,13,14, Lerman-Sagie T11,12,13, Malone S15, Bassan H16, Goldberg-Stern H7, Stanley T17, Hayman M18,19, Calvert S15, Korczyn AD20, Shevell M21, Scheffer IE1,22,23, Mulley JC9,24,25, Berkovic SF1.
- Epilepsia.Epilepsia.2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.
- OBJECTIVE: We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap with different molecular lesions.METHODS: Detailed clinical data were collected from 36 families comprising two or more individuals with neonatal seizures. The seizure cours
- PMID 25982755
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
Related Links
- Epidemiology In a study from Finland, the point prevalence of active epilepsy was found to be 3.93 per 1000 in children aged 0-15 years; almost 1% of the patients had benign familial neonatal convulsions. Based on ...
- Convulsions benign familial neonatal symptoms, causes, diagnosis, and treatment information for Convulsions benign familial neonatal (Epilepsy, Benign Neonatal) with alternative diagnoses, full-text book chapters, misdiagnosis ...
★リンクテーブル★
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- 英
- benign familial neonatal convulsion
- 同
- 家族性良性新生児痙攣
- 関
- 良性家族性新生児痙攣、良性家族性新生児けいれん
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- 関
- benign familial neonatal convulsion、benign neonatal convulsion
[★]
- 関
- benign familial neonatal convulsion、benign neonatal epilepsy
[★]
- 英
- benign familial neonatal convulsion
- 関
- 良性家族性新生児痙攣、家族性良性新生児痙攣
[★]
- 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
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- 関
- neonatal period、neonatally、neonate、newborn、newborn animal、newborn infant
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- 関
- family、family member、household、kindred
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- 関
- benignant、mild、mildly