BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

478 related articles for article (PubMed ID: 29285950)

  • 1. PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.
    Zhao G; Liu X; Zhang Q; Wang K
    Int J Neurosci; 2018 Aug; 128(8):751-760. PubMed ID: 29285950
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.
    Zhang Y; Li L; Chen W; Gan J; Liu ZG
    Clin Neurol Neurosurg; 2017 Aug; 159():25-28. PubMed ID: 28525812
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The evolving spectrum of PRRT2-associated paroxysmal diseases.
    Ebrahimi-Fakhari D; Saffari A; Westenberger A; Klein C
    Brain; 2015 Dec; 138(Pt 12):3476-95. PubMed ID: 26598493
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.
    Steinlein OK; Villain M; Korenke C
    Seizure; 2012 Nov; 21(9):740-2. PubMed ID: 22877996
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.
    van Vliet R; Breedveld G; de Rijk-van Andel J; Brilstra E; Verbeek N; Verschuuren-Bemelmans C; Boon M; Samijn J; Diderich K; van de Laar I; Oostra B; Bonifati V; Maat-Kievit A
    Neurology; 2012 Aug; 79(8):777-84. PubMed ID: 22875091
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].
    Yang X; Zhang Y; Xu X; Wang S; Yang Z; Wu Y; Zhang X; Liu X; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):679-85. PubMed ID: 25449067
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.
    Li W; Wang Y; Li B; Tang B; Sun H; Lai J; He N; Li B; Meng H; Liao W; Liu X
    Brain Behav; 2018 Nov; 8(11):e01134. PubMed ID: 30307717
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.
    Wang JL; Mao X; Hu ZM; Li JD; Li N; Guo JF; Jiang H; Shen L; Li J; Shi YT; Xia K; Liu JY; Liao WP; Tang BS
    Neurosci Lett; 2013 Sep; 552():40-5. PubMed ID: 23896529
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
    Okumura A; Shimojima K; Kurahashi H; Numoto S; Shimada S; Ishii A; Ohmori I; Takahashi S; Awaya T; Kubota T; Sakakibara T; Ishihara N; Hattori A; Torisu H; Tohyama J; Inoue T; Haibara A; Nishida T; Yuhara Y; Miya K; Tanaka R; Hirose S; Yamamoto T
    Seizure; 2019 Oct; 71():1-5. PubMed ID: 31154286
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
    Zhang LM; An Y; Pan G; Ding YF; Zhou YF; Yao YH; Wu BL; Zhou SZ
    J Child Neurol; 2015 Sep; 30(10):1263-9. PubMed ID: 25403460
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
    Yang X; Zhang Y; Xu X; Wang S; Yang Z; Wu Y; Liu X; Wu X
    BMC Neurol; 2013 Dec; 13():209. PubMed ID: 24370076
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PRRT2 is mutated in familial and non-familial benign infantile seizures.
    Specchio N; Terracciano A; Trivisano M; Cappelletti S; Claps D; Travaglini L; Cusmai R; Marras CE; Zara F; Fusco L; Bertini E; Vigevano F
    Eur J Paediatr Neurol; 2013 Jan; 17(1):77-81. PubMed ID: 22902423
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The clinical and genetic heterogeneity of paroxysmal dyskinesias.
    Gardiner AR; Jaffer F; Dale RC; Labrum R; Erro R; Meyer E; Xiromerisiou G; Stamelou M; Walker M; Kullmann D; Warner T; Jarman P; Hanna M; Kurian MA; Bhatia KP; Houlden H
    Brain; 2015 Dec; 138(Pt 12):3567-80. PubMed ID: 26598494
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
    Huang XJ; Wang T; Wang JL; Liu XL; Che XQ; Li J; Mao X; Zhang M; Bi GH; Wu L; Zhang Y; Wang JY; Shen JY; Tang BS; Cao L; Chen SD
    Neurology; 2015 Nov; 85(18):1546-53. PubMed ID: 26446061
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.
    Wang K; Zhao X; Du Y; He F; Peng G; Luo B
    Brain Dev; 2013 Aug; 35(7):664-6. PubMed ID: 22902309
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.
    Mao CY; Shi CH; Song B; Wu J; Ji Y; Qin J; Li YS; Wang JJ; Shang DD; Sun SL; Xu YM
    J Neurol Sci; 2014 May; 340(1-2):91-3. PubMed ID: 24661410
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    Motoyama R; Matsudaira T; Terada K; Usui N; Yoshiura KI; Takahashi Y
    Epilepsy Behav Rep; 2022; 19():100554. PubMed ID: 35712060
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
    Ishii A; Yasumoto S; Ihara Y; Inoue T; Fujita T; Nakamura N; Ohfu M; Yamashita Y; Takatsuka H; Taga T; Miyata R; Ito M; Tsuchiya H; Matsuoka T; Kitao T; Murakami K; Lee WT; Kaneko S; Hirose S
    Brain Dev; 2013 Jun; 35(6):524-30. PubMed ID: 23073245
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
    Silveira-Moriyama L; Gardiner AR; Meyer E; King MD; Smith M; Rakshi K; Parker A; Mallick AA; Brown R; Vassallo G; Jardine PE; Guerreiro MM; Lees AJ; Houlden H; Kurian MA
    Dev Med Child Neurol; 2013 Apr; 55(4):327-34. PubMed ID: 23363396
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
    Tan LC; Methawasin K; Teng EW; Ng AR; Seah SH; Au WL; Liu JJ; Foo JN; Zhao Y; Tan EK
    Eur J Neurol; 2014 Apr; 21(4):674-8. PubMed ID: 23551744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.