CDKL5 variants: Improving our understanding of a rare neurologic disorder.

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by com...

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Bibliographic Details
Main Authors: Hector, R., Kalscheuer, V., Hennig, F., Leonard, H., Downs, Jennepher, Clarke, A., Benke, T., Armstrong, J., Pineda, M., Bailey, M., Cobb, S.
Format: Journal Article
Published: 2017
Online Access:http://hdl.handle.net/20.500.11937/73020

Internet

http://hdl.handle.net/20.500.11937/73020

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