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 *

213 related articles for article (PubMed ID: 20713952)

  • 1. Protocadherin 19 mutations in girls with infantile-onset epilepsy.
    Marini C; Mei D; Parmeggiani L; Norci V; Calado E; Ferrari A; Moreira A; Pisano T; Specchio N; Vigevano F; Battaglia D; Guerrini R
    Neurology; 2010 Aug; 75(7):646-53. PubMed ID: 20713952
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
    Liu AJ; Zhang YH; Xu XJ; Yang XL; Yang ZX; Wu Y; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2016 May; 54(5):327-31. PubMed ID: 27143072
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
    Marini C; Darra F; Specchio N; Mei D; Terracciano A; Parmeggiani L; Ferrari A; Sicca F; Mastrangelo M; Spaccini L; Canopoli ML; Cesaroni E; Zamponi N; Caffi L; Ricciardelli P; Grosso S; Pisano T; Canevini MP; Granata T; Accorsi P; Battaglia D; Cusmai R; Vigevano F; Dalla Bernardina B; Guerrini R
    Epilepsia; 2012 Dec; 53(12):2111-9. PubMed ID: 22946748
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
    Liu A; Xu X; Yang X; Jiang Y; Yang Z; Liu X; Wu Y; Wu X; Wei L; Zhang Y
    Clin Genet; 2017 Jan; 91(1):54-62. PubMed ID: 27527380
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.
    Chemaly N; Losito E; Pinard JM; Gautier A; Villeneuve N; Arbues AS; An I; Desguerre I; Dulac O; Chiron C; Kaminska A; Nabbout R
    Epileptic Disord; 2018 Dec; 20(6):457-467. PubMed ID: 30530412
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PCDH19 mutations in female patients from Southern Italy.
    Gagliardi M; Annesi G; Sesta M; Tarantino P; Conti P; Labate A; Di Rosa G; Quattrone A; Gambardella A
    Seizure; 2015 Jan; 24():118-20. PubMed ID: 25218114
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
    Higurashi N; Nakamura M; Sugai M; Ohfu M; Sakauchi M; Sugawara Y; Nakamura K; Kato M; Usui D; Mogami Y; Fujiwara Y; Ito T; Ikeda H; Imai K; Takahashi Y; Nukui M; Inoue T; Okazaki S; Kirino T; Tomonoh Y; Inoue T; Takano K; Shimakawa S; Hirose S
    Epilepsy Res; 2013 Sep; 106(1-2):191-9. PubMed ID: 23712037
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
    Yang L; Liu J; Su Q; Li Y; Yang X; Xu L; Tong L; Li B
    Brain Behav; 2019 Dec; 9(12):e01455. PubMed ID: 31714027
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
    Doose H; Lunau H; Castiglione E; Waltz S
    Neuropediatrics; 1998 Oct; 29(5):229-38. PubMed ID: 9810557
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
    Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
    BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
    Depienne C; Bouteiller D; Keren B; Cheuret E; Poirier K; Trouillard O; Benyahia B; Quelin C; Carpentier W; Julia S; Afenjar A; Gautier A; Rivier F; Meyer S; Berquin P; Hélias M; Py I; Rivera S; Bahi-Buisson N; Gourfinkel-An I; Cazeneuve C; Ruberg M; Brice A; Nabbout R; Leguern E
    PLoS Genet; 2009 Feb; 5(2):e1000381. PubMed ID: 19214208
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
    Jaimes A; Guerrero-López R; González-Giráldez B; Serratosa JM
    Epileptic Disord; 2020 Jun; 22(3):323-326. PubMed ID: 32540801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Yang Y; Xiangwei W; Zhang X; Xiao J; Chen J; Yang X; Jia T; Yang Z; Jiang Y; Zhang Y
    Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.
    Trivisano M; Pietrafusa N; Ciommo Vd; Cappelletti S; Palma Ld; Terracciano A; Bertini E; Vigevano F; Specchio N
    Epilepsy Res; 2016 Sep; 125():32-6. PubMed ID: 27371789
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.
    Dell'Isola GB; Vinti V; Fattorusso A; Tascini G; Mencaroni E; Di Cara G; Striano P; Verrotti A
    Front Neurol; 2021; 12():780053. PubMed ID: 35111125
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
    Depienne C; LeGuern E
    Hum Mutat; 2012 Apr; 33(4):627-34. PubMed ID: 22267240
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ; Zhang YH; Sun HH; Liu XY; Wu HS; Wu XR
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PCDH19 mutation in Japanese females with epilepsy.
    Higurashi N; Shi X; Yasumoto S; Oguni H; Sakauchi M; Itomi K; Miyamoto A; Shiraishi H; Kato T; Makita Y; Hirose S
    Epilepsy Res; 2012 Mar; 99(1-2):28-37. PubMed ID: 22050978
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
    Trivisano M; Pietrafusa N; Terracciano A; Marini C; Mei D; Darra F; Accorsi P; Battaglia D; Caffi L; Canevini MP; Cappelletti S; Cesaroni E; de Palma L; Costa P; Cusmai R; Giordano L; Ferrari A; Freri E; Fusco L; Granata T; Martino T; Mastrangelo M; Bova SM; Parmeggiani L; Ragona F; Sicca F; Striano P; Specchio LM; Tondo I; Zambrelli E; Zamponi N; Zanus C; Boniver C; Vecchi M; Avolio C; Dalla Bernardina B; Bertini E; Guerrini R; Vigevano F; Specchio N
    Epilepsia; 2018 Dec; 59(12):2260-2271. PubMed ID: 30451291
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.