Expanding the phenotype of PURA-related developmental epileptic encephalopathy

Epileptic Disord. 2022 Apr 1;24(2):445-446. doi: 10.1684/epd.2021.1407.

Authors

Guido Rubboli¹, Katrine M Johannesen²

Affiliations

¹ Danish Epilepsy Center, Dianalund Denmark, Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
² Danish Epilepsy Center, Dianalund Denmark, Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

PMID: 34933843
DOI: 10.1684/epd.2021.1407

No abstract available

MeSH terms

Child
DNA-Binding Proteins / genetics
Developmental Disabilities / genetics
Epilepsy* / genetics
Humans
Mutation
Phenotype
Spasms, Infantile*
Transcription Factors / genetics

Substances

DNA-Binding Proteins
PURA protein, human
Transcription Factors