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Items: 1 to 20 of 66

1.

Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?

Barbiero I, De Rosa R, Kilstrup-Nielsen C.

Int J Mol Sci. 2019 Aug 21;20(17). pii: E4075. doi: 10.3390/ijms20174075. Review.

2.

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Bernardo P, Ferretti A, Terrone G, Santoro C, Bravaccio C, Striano S, Coppola A, Striano P.

Epileptic Disord. 2019 Jun 1;21(3):271-277. doi: 10.1684/epd.2019.1071.

PMID:
31225800
3.

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.

Tang S, Terzic B, Wang IJ, Sarmiento N, Sizov K, Cui Y, Takano H, Marsh ED, Zhou Z, Coulter DA.

Nat Commun. 2019 Jun 14;10(1):2655. doi: 10.1038/s41467-019-10689-w.

4.

Phenotypic manifestations between male and female children with CDKL5 mutations.

Liang JS, Huang H, Wang JS, Lu JF.

Brain Dev. 2019 Oct;41(9):783-789. doi: 10.1016/j.braindev.2019.05.003. Epub 2019 May 20.

PMID:
31122804
5.

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 Feb - Apr;25(1-2):59-61. doi: 10.1080/13554794.2019.1612923. Epub 2019 May 3.

PMID:
31046567
6.

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder.

Dale T, Downs J, Olson H, Bergin AM, Smith S, Leonard H.

Epilepsy Res. 2019 Mar;151:31-39. doi: 10.1016/j.eplepsyres.2019.02.001. Epub 2019 Feb 5. Review.

PMID:
30771550
7.

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.

Tangarorang J, Leonard H, Epstein A, Downs J.

Am J Med Genet A. 2019 Feb;179(2):249-256. doi: 10.1002/ajmg.a.61012. Epub 2018 Dec 18.

PMID:
30561084
8.

Diaper changing-induced reflex seizures in CDKL5-related epilepsy.

Solazzi R, Fiorini E, Parrini E, Darra F, Dalla Bernardina B, Cantalupo G.

Epileptic Disord. 2018 Oct 1;20(5):428-433. doi: 10.1684/epd.2018.0999.

9.

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM, Morgan ME, Peltier J, Weiland F, Gregorczyk M, Brown FC, Macartney T, Toth R, Trost M, Rouse J.

EMBO J. 2018 Dec 14;37(24). pii: e99559. doi: 10.15252/embj.201899559. Epub 2018 Sep 28.

10.

Molecular and Synaptic Bases of CDKL5 Disorder.

Zhu YC, Xiong ZQ.

Dev Neurobiol. 2019 Jan;79(1):8-19. doi: 10.1002/dneu.22639. Epub 2018 Oct 19. Review.

11.

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder.

Lim Z, Wong K, Downs J, Bebbington K, Demarest S, Leonard H.

Epilepsy Res. 2018 Oct;146:36-40. doi: 10.1016/j.eplepsyres.2018.07.013. Epub 2018 Jul 23.

PMID:
30071384
12.

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.

Devinsky O, Verducci C, Thiele EA, Laux LC, Patel AD, Filloux F, Szaflarski JP, Wilfong A, Clark GD, Park YD, Seltzer LE, Bebin EM, Flamini R, Wechsler RT, Friedman D.

Epilepsy Behav. 2018 Sep;86:131-137. doi: 10.1016/j.yebeh.2018.05.013. Epub 2018 Jul 11.

13.

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. doi: 10.1007/s11033-018-4180-1. Epub 2018 May 11.

PMID:
29752575
14.

The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.

Tramarin M, Rusconi L, Pizzamiglio L, Barbiero I, Peroni D, Scaramuzza L, Guilliams T, Cavalla D, Antonucci F, Kilstrup-Nielsen C.

Hum Mol Genet. 2018 Jun 15;27(12):2052-2063. doi: 10.1093/hmg/ddy108.

PMID:
29618004
15.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S.

Eur J Med Genet. 2018 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3.

PMID:
29510241
16.

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder.

Trazzi S, De Franceschi M, Fuchs C, Bastianini S, Viggiano R, Lupori L, Mazziotti R, Medici G, Lo Martire V, Ren E, Rimondini R, Zoccoli G, Bartesaghi R, Pizzorusso T, Ciani E.

Hum Mol Genet. 2018 May 1;27(9):1572-1592. doi: 10.1093/hmg/ddy064.

PMID:
29474534
17.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.

Bodian DL, Schreiber JM, Vilboux T, Khromykh A, Hauser NS.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002360. doi: 10.1101/mcs.a002360. Print 2018 Jun.

18.

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.

Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5.

PMID:
28872899
19.

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

Jdila MB, Issa AB, Khabou B, Rhouma BB, Kamoun F, Ammar-Keskes L, Triki C, Fakhfakh F.

Clin Chim Acta. 2017 Oct;473:51-59. doi: 10.1016/j.cca.2017.08.001. Epub 2017 Aug 3.

PMID:
28780406
20.

The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex.

Barbiero I, Peroni D, Tramarin M, Chandola C, Rusconi L, Landsberger N, Kilstrup-Nielsen C.

Hum Mol Genet. 2017 Sep 15;26(18):3520-3530. doi: 10.1093/hmg/ddx237.

PMID:
28641386

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