BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 32469098)

  • 1. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
    Tang S; Addis L; Smith A; Topp SD; Pendziwiat M; Mei D; Parker A; Agrawal S; Hughes E; Lascelles K; Williams RE; Fallon P; Robinson R; Cross HJ; Hedderly T; Eltze C; Kerr T; Desurkar A; Hussain N; Kinali M; Bagnasco I; Vassallo G; Whitehouse W; Goyal S; Absoud M; ; Møller RS; Helbig I; Weber YG; Marini C; Guerrini R; Simpson MA; Pal DK
    Epilepsia; 2020 May; 61(5):995-1007. PubMed ID: 32469098
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.
    Yuan H; Wang Q; Li Y; Cheng S; Liu J; Liu Y
    BMC Med Genet; 2020 May; 21(1):93. PubMed ID: 32375772
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Defining the phenotypic spectrum of SLC6A1 mutations.
    Johannesen KM; Gardella E; Linnankivi T; Courage C; de Saint Martin A; Lehesjoki AE; Mignot C; Afenjar A; Lesca G; Abi-Warde MT; Chelly J; Piton A; Merritt JL; Rodan LH; Tan WH; Bird LM; Nespeca M; Gleeson JG; Yoo Y; Choi M; Chae JH; Czapansky-Beilman D; Reichert SC; Pendziwiat M; Verhoeven JS; Schelhaas HJ; Devinsky O; Christensen J; Specchio N; Trivisano M; Weber YG; Nava C; Keren B; Doummar D; Schaefer E; Hopkins S; Dubbs H; Shaw JE; Pisani L; Myers CT; Tang S; Tang S; Pal DK; Millichap JJ; Carvill GL; Helbig KL; Mecarelli O; Striano P; Helbig I; Rubboli G; Mefford HC; Møller RS
    Epilepsia; 2018 Feb; 59(2):389-402. PubMed ID: 29315614
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies.
    Kim SY; Jang SS; Kim JI; Kim H; Hwang H; Choi JE; Chae JH; Kim KJ; Lim BC
    Seizure; 2019 Oct; 71():222-228. PubMed ID: 31401500
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
    Trivisano M; Striano P; Sartorelli J; Giordano L; Traverso M; Accorsi P; Cappelletti S; Claps DJ; Vigevano F; Zara F; Specchio N
    Epilepsy Behav; 2015 Oct; 51():53-6. PubMed ID: 26262932
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?
    Routier L; Verny F; Barcia G; Chemaly N; Desguerre I; Colleaux L; Nabbout R
    Clin Genet; 2019 Sep; 96(3):254-260. PubMed ID: 31170314
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Study of epileptic drop attacks in symptomatic epilepsy of early childhood - differences from those in myoclonic-astatic epilepsy.
    Itoh Y; Oguni H; Hirano Y; Osawa M
    Brain Dev; 2015 Jan; 37(1):49-58. PubMed ID: 24731746
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and genetic characteristics of patients with Doose syndrome.
    Hinokuma N; Nakashima M; Asai H; Nakamura K; Akaboshi S; Fukuoka M; Togawa M; Oana S; Ohno K; Kasai M; Ogawa C; Yamamoto K; Okumiya K; Chong PF; Kira R; Uchino S; Fukuyama T; Shinagawa T; Miyata Y; Abe Y; Hojo A; Kobayashi K; Maegaki Y; Ishikawa N; Ikeda H; Amamoto M; Mizuguchi T; Iwama K; Itai T; Miyatake S; Saitsu H; Matsumoto N; Kato M
    Epilepsia Open; 2020 Sep; 5(3):442-450. PubMed ID: 32913952
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Electroclinical features of myoclonic-atonic epilepsy].
    Deng J; Zhang YH; Liu XY; Yang ZX; Xiong H; Wang S; Bao XH; Jiang YW; Qin J; Lin Q; Wu XR
    Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):577-82. PubMed ID: 22093418
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.
    Oguni H
    Eur J Paediatr Neurol; 2022 Jan; 36():37-50. PubMed ID: 34883415
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.
    Palmer S; Towne MC; Pearl PL; Pelletier RC; Genetti CA; Shi J; Beggs AH; Agrawal PB; Brownstein CA
    Pediatr Neurol; 2016 Nov; 64():77-79. PubMed ID: 27600546
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome.
    Oguni H; Fukuyama Y; Tanaka T; Hayashi K; Funatsuka M; Sakauchi M; Shirakawa S; Osawa M
    Brain Dev; 2001 Nov; 23(7):757-64. PubMed ID: 11701290
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood.
    Oguni H; Tanaka T; Hayashi K; Funatsuka M; Sakauchi M; Shirakawa S; Osawa M
    Neuropediatrics; 2002 Jun; 33(3):122-32. PubMed ID: 12200741
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis.
    Kaminska A; Ickowicz A; Plouin P; Bru MF; Dellatolas G; Dulac O
    Epilepsy Res; 1999 Aug; 36(1):15-29. PubMed ID: 10463847
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical characteristics of PCDH19-female limited epilepsy].
    Chen Y; Yang XL; Liu AJ; Sun D; Yang Y; Zhang J; Chen JY; Yang ZX; Jiang YW; Wu XR; Zhang YH
    Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):857-862. PubMed ID: 31665840
    [No Abstract]   [Full Text] [Related]  

  • 16. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
    Carvill GL; McMahon JM; Schneider A; Zemel M; Myers CT; Saykally J; Nguyen J; Robbiano A; Zara F; Specchio N; Mecarelli O; Smith RL; Leventer RJ; Møller RS; Nikanorova M; Dimova P; Jordanova A; Petrou S; ; Helbig I; Striano P; Weckhuysen S; Berkovic SF; Scheffer IE; Mefford HC
    Am J Hum Genet; 2015 May; 96(5):808-15. PubMed ID: 25865495
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
    Nickels K; Kossoff EH; Eschbach K; Joshi C
    Epilepsia; 2021 Jan; 62(1):120-127. PubMed ID: 33190223
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K; Brimble E; Poduri A
    Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
    Poulat AL; Ville D; de Bellescize J; André-Obadia N; Cacciagli P; Milh M; Villard L; Lesca G
    Epilepsy Res; 2015 Mar; 111():72-7. PubMed ID: 25769375
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution.
    Trivisano M; Specchio N; Cappelletti S; Di Ciommo V; Claps D; Specchio LM; Vigevano F; Fusco L
    Epilepsy Res; 2011 Nov; 97(1-2):133-41. PubMed ID: 21873030
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.