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Items: 1 to 20 of 116

1.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group.

Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Erratum in: Neuropediatrics. 2013 Aug;44(4):237.

PMID:
22430159
2.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.

BMC Med Genet. 2014 Feb 25;15:24. doi: 10.1186/1471-2350-15-24.

3.

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

PMID:
18790821
4.

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A.

Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10.

PMID:
19362436
5.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

PMID:
15917271
6.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J.

Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8.

7.

Epilepsy in Rett syndrome: clinical and genetic features.

Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E.

Epilepsy Behav. 2010 Nov;19(3):296-300. doi: 10.1016/j.yebeh.2010.06.051. Epub 2010 Aug 21.

8.

Rett syndrome: a wide clinical and autonomic picture.

Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella M.

Orphanet J Rare Dis. 2016 Sep 29;11(1):132.

9.

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK, Mehta B, Menon SR, Raha S, Udani V.

Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.

PMID:
23242510
10.

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B.

J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16.

PMID:
21160487
11.

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.

Eur J Hum Genet. 2005 Oct;13(10):1113-20.

12.

Epilepsy in Rett syndrome---the experience of a National Rett Center.

Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B.

Epilepsia. 2010 Jul;51(7):1252-8. doi: 10.1111/j.1528-1167.2010.02597.x. Epub 2010 May 13.

13.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.

Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.

J Med Genet. 2005 Feb;42(2):103-7.

14.

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E.

Epilepsy Behav. 2008 Feb;12(2):326-31. Epub 2007 Dec 11. Review.

PMID:
18063413
15.

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL, Spruijt L, Yntema HG, Verrips A.

J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15.

PMID:
21765152
16.

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.

Am J Med Genet A. 2009 Feb 15;149A(4):722-5. doi: 10.1002/ajmg.a.32711.

PMID:
19253388
17.

Molecular characteristics of Chinese patients with Rett syndrome.

Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X.

Eur J Med Genet. 2012 Dec;55(12):677-81. doi: 10.1016/j.ejmg.2012.08.009. Epub 2012 Aug 27.

PMID:
22982301
18.

Treating hypoxia in a feeble breather with Rett syndrome.

Julu PO, Witt Engerström I, Hansen S, Apartopoulos F, Engerström B; ESSRA group.

Brain Dev. 2013 Mar;35(3):270-3. doi: 10.1016/j.braindev.2012.04.004. Epub 2012 May 20.

PMID:
22617859
19.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.

Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

20.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.

BMC Med Genet. 2012 Aug 6;13:68. doi: 10.1186/1471-2350-13-68.

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