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 *

244 related articles for article (PubMed ID: 30431232)

  • 1. The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).
    Gerosa L; Francolini M; Bassani S; Passafaro M
    Dev Neurobiol; 2019 Jan; 79(1):75-84. PubMed ID: 30431232
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
    Perez D; Hsieh DT; Rohena L
    Am J Med Genet A; 2017 Jun; 173(6):1625-1630. PubMed ID: 28462982
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
    Kozina AA; Okuneva EG; Baryshnikova NV; Fedonyuk ID; Kholin AA; Il'ina ES; Krasnenko AY; Stetsenko IF; Plotnikov NA; Klimchuk OI; Surkova EI; Ilinsky VV
    BMC Med Genet; 2020 Oct; 21(1):209. PubMed ID: 33087045
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
    Duszyc K; Terczynska I; Hoffman-Zacharska D
    J Appl Genet; 2015 Feb; 56(1):49-56. PubMed ID: 25204757
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
    Smith L; Singhal N; El Achkar CM; Truglio G; Rosen Sheidley B; Sullivan J; Poduri A
    Epilepsia; 2018 Mar; 59(3):679-689. PubMed ID: 29377098
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].
    Yang L; Arafat A; Peng J; Chen C; Ma Y; Yin F
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2017 Jun; 42(6):730-736. PubMed ID: 28690234
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
    Tan C; Shard C; Ranieri E; Hynes K; Pham DH; Leach D; Buchanan G; Corbett M; Shoubridge C; Kumar R; Douglas E; Nguyen LS; Mcmahon J; Sadleir L; Specchio N; Marini C; Guerrini R; Moller RS; Depienne C; Haan E; Thomas PQ; Berkovic SF; Scheffer IE; Gecz J
    Hum Mol Genet; 2015 Sep; 24(18):5250-9. PubMed ID: 26123493
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
    Mercimek-Mahmutoglu S; Patel J; Cordeiro D; Hewson S; Callen D; Donner EJ; Hahn CD; Kannu P; Kobayashi J; Minassian BA; Moharir M; Siriwardena K; Weiss SK; Weksberg R; Snead OC
    Epilepsia; 2015 May; 56(5):707-16. PubMed ID: 25818041
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Epilepsy-Related Protein PCDH19 Regulates Tonic Inhibition, GABA
    Serratto GM; Pizzi E; Murru L; Mazzoleni S; Pelucchi S; Marcello E; Mazzanti M; Passafaro M; Bassani S
    Mol Neurobiol; 2020 Dec; 57(12):5336-5351. PubMed ID: 32880860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
    van Harssel JJ; Weckhuysen S; van Kempen MJ; Hardies K; Verbeek NE; de Kovel CG; Gunning WB; van Daalen E; de Jonge MV; Jansen AC; Vermeulen RJ; Arts WF; Verhelst H; Fogarasi A; de Rijk-van Andel JF; Kelemen A; Lindhout D; De Jonghe P; Koeleman BP; Suls A; Brilstra EH
    Neurogenetics; 2013 Feb; 14(1):23-34. PubMed ID: 23334464
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
    Sadleir LG; Kolc KL; King C; Mefford HC; Dale RC; Gecz J; Scheffer IE
    Eur J Paediatr Neurol; 2020 Jan; 24():142-147. PubMed ID: 31928905
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
    Hynes K; Tarpey P; Dibbens LM; Bayly MA; Berkovic SF; Smith R; Raisi ZA; Turner SJ; Brown NJ; Desai TD; Haan E; Turner G; Christodoulou J; Leonard H; Gill D; Stratton MR; Gecz J; Scheffer IE
    J Med Genet; 2010 Mar; 47(3):211-6. PubMed ID: 19752159
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. PCDH19-clustering epilepsy, pathophysiology and clinical significance.
    Kowkabi S; Yavarian M; Kaboodkhani R; Mohammadi M; Shervin Badv R
    Epilepsy Behav; 2024 May; 154():109730. PubMed ID: 38521028
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
    Gürsoy S; Erçal D
    J Child Neurol; 2016 Mar; 31(4):523-32. PubMed ID: 26271793
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.