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 *

291 related articles for article (PubMed ID: 29444904)

  • 21. New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.
    Melikishvili G; Epitashvili N; Tabatadze N; Chikvinidze G; Dulac O; Bienvenu T; Gataullina S
    Epilepsy Behav; 2019 May; 94():308-311. PubMed ID: 30898514
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
    Kato T; Morisada N; Nagase H; Nishiyama M; Toyoshima D; Nakagawa T; Maruyama A; Fu XJ; Nozu K; Wada H; Takada S; Iijima K
    Brain Dev; 2015 Oct; 37(9):911-5. PubMed ID: 25819767
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
    Keehan L; Haviland I; Gofin Y; Swanson LC; El Achkar CM; Schreiber J; VanNoy GE; O'Heir E; O'Donnell-Luria A; Lewis RA; Magoulas P; Tran A; Azamian MS; Chao HT; Pham L; Samaco RC; Elsea S; Thorpe E; Kesari A; Perry D; Lee B; Lalani SR; Rosenfeld JA; Olson HE; Burrage LC;
    Am J Med Genet A; 2022 Dec; 188(12):3516-3524. PubMed ID: 35934918
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.
    Hector RD; Dando O; Landsberger N; Kilstrup-Nielsen C; Kind PC; Bailey ME; Cobb SR
    PLoS One; 2016; 11(6):e0157758. PubMed ID: 27315173
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
    Moseley BD; Dhamija R; Wirrell EC; Nickels KC
    Pediatr Neurol; 2012 Feb; 46(2):101-5. PubMed ID: 22264704
    [TBL] [Abstract][Full Text] [Related]  

  • 26. CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures.
    Wang HT; Zhu ZA; Li YY; Lou SS; Yang G; Feng X; Xu W; Huang ZL; Cheng X; Xiong ZQ
    Epilepsia; 2021 Feb; 62(2):517-528. PubMed ID: 33400301
    [TBL] [Abstract][Full Text] [Related]  

  • 27. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
    Daniels C; Greene C; Smith L; Pestana-Knight E; Demarest S; Zhang B; Benke TA; Poduri A; Olson HE;
    Dev Med Child Neurol; 2024 Apr; 66(4):456-468. PubMed ID: 37771170
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
    MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
    Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
    [TBL] [Abstract][Full Text] [Related]  

  • 29. X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
    Terzic B; Cui Y; Edmondson AC; Tang S; Sarmiento N; Zaitseva D; Marsh ED; Coulter DA; Zhou Z
    Neurobiol Dis; 2021 Jan; 148():105176. PubMed ID: 33197557
    [TBL] [Abstract][Full Text] [Related]  

  • 30. CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
    Lilles S; Talvik I; Noormets K; Vaher U; Õunap K; Reimand T; Sander V; Ilves P; Talvik T
    Neuropediatrics; 2016 Dec; 47(6):361-367. PubMed ID: 27599155
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular and Synaptic Bases of CDKL5 Disorder.
    Zhu YC; Xiong ZQ
    Dev Neurobiol; 2019 Jan; 79(1):8-19. PubMed ID: 30246934
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures].
    Shike T; Takahashi Y; Kimura N; Imai K; Yamamoto T; Takahashi T
    No To Hattatsu; 2017 Jan; 49(1):28-31. PubMed ID: 30011151
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
    Intusoma U; Hayeeduereh F; Plong-On O; Sripo T; Vasiknanonte P; Janjindamai S; Lusawat A; Thammongkol S; Visudtibhan A; Limprasert P
    Eur J Paediatr Neurol; 2011 Sep; 15(5):432-8. PubMed ID: 21775177
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder.
    Arican P; Gencpinar P; Olgac Dundar N
    Neurocase; 2019; 25(1-2):59-61. PubMed ID: 31046567
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.
    Grosso S; Brogna A; Bazzotti S; Renieri A; Morgese G; Balestri P
    Brain Dev; 2007 May; 29(4):239-42. PubMed ID: 17049193
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
    Mei D; Marini C; Novara F; Bernardina BD; Granata T; Fontana E; Parrini E; Ferrari AR; Murgia A; Zuffardi O; Guerrini R
    Epilepsia; 2010 Apr; 51(4):647-54. PubMed ID: 19780792
    [TBL] [Abstract][Full Text] [Related]  

  • 37. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
    Melani F; Mei D; Pisano T; Savasta S; Franzoni E; Ferrari AR; Marini C; Guerrini R
    Dev Med Child Neurol; 2011 Apr; 53(4):354-60. PubMed ID: 21309761
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome.
    Vitorino M; Cunha N; Conceição N; Cancela ML
    Mol Biol Rep; 2018 Aug; 45(4):445-451. PubMed ID: 29752575
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation.
    Jdila MB; Triki C; Rhouma BB; Jomaa RB; Issa AB; Ammar-Keskes L; Kamoun F; Fakhfakh F
    Int J Dev Neurosci; 2019 Feb; 72():22-30. PubMed ID: 30236769
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.