Publication: Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity
Issued Date
2011-09-01
Resource Type
ISSN
15322130
10903798
10903798
Other identifier(s)
2-s2.0-80052960630
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Mahidol University
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SCOPUS
Bibliographic Citation
European Journal of Paediatric Neurology. Vol.15, No.5 (2011), 432-438
Suggested Citation
Utcharee Intusoma, Fadell Hayeeduereh, Oradawan Plong-On, Thanya Sripo, Punnee Vasiknanonte, Supachai Janjindamai, Apasri Lusawat, Sasipa Thammongkol, Anannit Visudtibhan, Pornprot Limprasert Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology. Vol.15, No.5 (2011), 432-438. doi:10.1016/j.ejpn.2011.01.005 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/12356
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Title
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity
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Abstract
Purposes: To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. Methods: Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical sensitivity was reviewed by combining the results of studies using similar inclusion screening criteria. Results: Thirty children (19 girls and 11 boys) with a median seizure onset of 7 months were screened. Almost a half had infantile spasms and one fifth had stereotypic hand movements. A novel c.2854C > T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features. Her mother had a mild intellectual disability, yet her grandmother and half sister were normal despite having the same genetic alteration (random X-inactivation patterns). The pathogenicity of p.R952X identified here was uncertain since healthy relatives and 6 female controls also harbor this alteration. The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.