Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2020 Feb 17;20(2):88-89.
doi: 10.1177/1535759720901734. eCollection 2020 Mar-Apr.

Phenotype to Genotype and Back Again

Comment

Phenotype to Genotype and Back Again

Heather C Mefford. Epilepsy Curr. .
No abstract available

PubMed Disclaimer

Comment on

References

    1. Bamshad MJ, Nickerson DA, Chong JX. Mendelian gene discovery: fast and furious with no end in sight. Am J Hum Genet. 2019;105(3):448–455. - PMC - PubMed
    1. Tao J, Van Esch H, Hagedorn-Greiwe M, et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004;75(6):1149–1154. - PMC - PubMed
    1. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75(6):1079–1093. - PMC - PubMed
    1. Demarest ST, Olson HE, Moss A, et al. CDKL5 deficiency disorder: relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019;60(8):1733–1742. - PMC - PubMed

LinkOut - more resources