These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 23073245)

  • 1. 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]  

  • 2. 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]  

  • 3. 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
    Neurology; 2012 Nov; 79(21):2104-8. PubMed ID: 23077018
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
    Heron SE; Grinton BE; Kivity S; Afawi Z; Zuberi SM; Hughes JN; Pridmore C; Hodgson BL; Iona X; Sadleir LG; Pelekanos J; Herlenius E; Goldberg-Stern H; Bassan H; Haan E; Korczyn AD; Gardner AE; Corbett MA; Gécz J; Thomas PQ; Mulley JC; Berkovic SF; Scheffer IE; Dibbens LM
    Am J Hum Genet; 2012 Jan; 90(1):152-60. PubMed ID: 22243967
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PRRT2 mutation in Japanese children with benign infantile epilepsy.
    Okumura A; Shimojima K; Kubota T; Abe S; Yamashita S; Imai K; Okanishi T; Enoki H; Fukasawa T; Tanabe T; Dibbens LM; Shimizu T; Yamamoto T
    Brain Dev; 2013 Aug; 35(7):641-6. PubMed ID: 23131349
    [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. 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]  

  • 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. [Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].
    Yang X; Zhang Y; Xu X; Yu X; Zhang X; Yang Z; Wang S; Wu Y; Liu X; Wu X
    Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):806-11. PubMed ID: 25582463
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
    Heron SE; Dibbens LM
    J Med Genet; 2013 Mar; 50(3):133-9. PubMed ID: 23343561
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Re-evaluation of PRRT2 mutations in paroxysmal disorders.
    Guo XN; Lu Q; Zhou XQ; Liu Q; Zhang X; Cui LY
    J Neurol; 2014 May; 261(5):951-3. PubMed ID: 24609974
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
    Liu XR; Wu M; He N; Meng H; Wen L; Wang JL; Zhang MP; Li WB; Mao X; Qin JM; Li BM; Tang B; Deng YH; Shi YW; Su T; Yi YH; Tang BS; Liao WP
    Genes Brain Behav; 2013 Mar; 12(2):234-40. PubMed ID: 23190448
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unusual variability of PRRT2 linked phenotypes within a family.
    Brueckner F; Kohl B; Puest B; Gassner S; Osseforth J; Lindenau M; Stodieck S; Biskup S; Lohmann E
    Eur J Paediatr Neurol; 2014 Jul; 18(4):540-2. PubMed ID: 24755245
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
    Zeng Q; Yang X; Zhang J; Liu A; Yang Z; Liu X; Wu Y; Wu X; Wei L; Zhang Y
    J Hum Genet; 2018 Jan; 63(1):9-18. PubMed ID: 29215089
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.
    Sangu N; Shimojima K; Akihisa O; Ando T; Yamamoto T
    Epilepsy Res; 2015 Dec; 118():10-3. PubMed ID: 26561923
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
    Becker F; Schubert J; Striano P; Anttonen AK; Liukkonen E; Gaily E; Gerloff C; Müller S; Heußinger N; Kellinghaus C; Robbiano A; Polvi A; Zittel S; von Oertzen TJ; Rostasy K; Schöls L; Warner T; Münchau A; Lehesjoki AE; Zara F; Lerche H; Weber YG
    J Neurol; 2013 May; 260(5):1234-44. PubMed ID: 23299620
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
    Méneret A; Grabli D; Depienne C; Gaudebout C; Picard F; Dürr A; Lagroua I; Bouteiller D; Mignot C; Doummar D; Anheim M; Tranchant C; Burbaud P; Jedynak CP; Gras D; Steschenko D; Devos D; Billette de Villemeur T; Vidailhet M; Brice A; Roze E
    Neurology; 2012 Jul; 79(2):170-4. PubMed ID: 22744660
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
    Zara F; Specchio N; Striano P; Robbiano A; Gennaro E; Paravidino R; Vanni N; Beccaria F; Capovilla G; Bianchi A; Caffi L; Cardilli V; Darra F; Bernardina BD; Fusco L; Gaggero R; Giordano L; Guerrini R; Incorpora G; Mastrangelo M; Spaccini L; Laverda AM; Vecchi M; Vanadia F; Veggiotti P; Viri M; Occhi G; Budetta M; Taglialatela M; Coviello DA; Vigevano F; Minetti C
    Epilepsia; 2013 Mar; 54(3):425-36. PubMed ID: 23360469
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.