Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes-Reference-Cited by-同舟云学术

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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

Published:2009-02-25 Issue:3 Volume:10 Page:241-250
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Russo S.,Marchi M.,Cogliati F.,Bonati M. T.,Pintaudi M.,Veneselli E.,Saletti V.,Balestrini M.,Ben-Zeev B.,Larizza L.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-009-0177-1.pdf

Reference24 articles.

1. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J (2003) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:1401–1411. doi: 10.1086/375538

2. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P (2007) Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev 29(4):239–242. doi: 10.1016/j.braindev.2006.09.001

3. Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29–33. doi: 10.1111/j.1399-0004.2006.00629.x

4. Li M, Pan H, Bao XH, Zhang YZ, Wu XR (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet 52:38–47. doi: 10.1007/s10038-006-0079-0

5. Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen MA, Gitiaux C, Lazzaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T (2008) Impairment of CDKL5 nuclear localization as a cause for severe infantile encephalopathy. J Med Genet 45:172–178. doi: 10.1136/jmg.2007.053504

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1. First report of Tunisian patients with CDKL5‐related encephalopathy;Epilepsia Open;2023-09-13

2. CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome;Cerebral Cortex;2023-07-10

3. CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases;Epilepsy Research;2023-02

4. Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain;International Journal of Molecular Sciences;2022-10-14

5. International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder;Frontiers in Neurology;2022-06-20

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