CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies

Dev Med Child Neurol. 2024 Apr;66(4):410-411. doi: 10.1111/dmcn.15797. Epub 2023 Oct 26.

Author

Walter E Kaufmann^{1

2

3}

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
² Boston Children's Hospital, Boston, MA, USA.
³ Anavex Life Sciences Corp., New York, NY, USA.

PMID: 37881024
DOI: 10.1111/dmcn.15797

No abstract available

MeSH terms

Epilepsy* / genetics
Epileptic Syndromes* / genetics
Humans
Mutation / genetics
Protein Serine-Threonine Kinases / genetics
Rett Syndrome* / complications
Rett Syndrome* / genetics
Spasms, Infantile* / genetics

Substances

CDKL5 protein, human
Protein Serine-Threonine Kinases

Supplementary concepts

CDKL5 deficiency disorder