Similar articles for PMID: 27081548

Year	Number of Results
2004	1
2007	1
2008	4
2009	1
2010	3
2011	5
2012	5
2013	3
2014	3
2015	8
2016	7
2017	10
2018	11
2019	9
2020	4
2022	1
2023	1
2024	0

1

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.

Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K. Yamamoto T, et al. Hum Genome Var. 2015 Nov 5;2:15042. doi: 10.1038/hgv.2015.42. eCollection 2015. Hum Genome Var. 2015. PMID: 27081548 Free PMC article.

2

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.

3

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899

4

Phenotypic manifestations between male and female children with CDKL5 mutations.

Liang JS, Huang H, Wang JS, Lu JF. Liang JS, et al. Brain Dev. 2019 Oct;41(9):783-789. doi: 10.1016/j.braindev.2019.05.003. Epub 2019 May 20. Brain Dev. 2019. PMID: 31122804

5

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. Melani F, et al. Dev Med Child Neurol. 2011 Apr;53(4):354-60. doi: 10.1111/j.1469-8749.2010.03889.x. Epub 2011 Feb 11. Dev Med Child Neurol. 2011. PMID: 21309761 Free article.

6

Epilepsy caused by CDKL5 mutations.

Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Castrén M, et al. Eur J Paediatr Neurol. 2011 Jan;15(1):65-9. doi: 10.1016/j.ejpn.2010.04.005. Epub 2010 May 20. Eur J Paediatr Neurol. 2011. PMID: 20493745

7

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T. Rosas-Vargas H, et al. J Med Genet. 2008 Mar;45(3):172-8. doi: 10.1136/jmg.2007.053504. Epub 2007 Nov 9. J Med Genet. 2008. PMID: 17993579

8

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Mei D, Darra F, Barba C, Marini C, Fontana E, Chiti L, Parrini E, Dalla Bernardina B, Guerrini R. Mei D, et al. Epilepsia. 2014 Nov;55(11):1748-53. doi: 10.1111/epi.12803. Epub 2014 Sep 29. Epilepsia. 2014. PMID: 25266480 Free article.

9

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747

10

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Gökben S, Serdaroğlu G, Yılmaz S, Bienvenu T, Ceylaner S. Gökben S, et al. Turk J Pediatr. 2015 May-Jun;57(3):272-6. Turk J Pediatr. 2015. PMID: 26701947

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