Acquired Microcephaly in a Patient with HECW2 Mutation

Can J Neurol Sci. 2021 May;48(3):435-437. doi: 10.1017/cjn.2020.180. Epub 2020 Aug 20.

Authors

Tyler Peikes^{1

2}, Aoife O'Carroll¹, Patrick Frosk^{1

2}, Michael S Salman¹

Affiliations

¹ Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
² Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

PMID: 32814609
DOI: 10.1017/cjn.2020.180

No abstract available

Keywords: Epileptic encephalopathy; Microcephaly; Neurodevelopmental disorders.

Publication types

Case Reports
Letter

MeSH terms

Brain Diseases*
Humans
Microcephaly* / complications
Microcephaly* / diagnostic imaging
Microcephaly* / genetics
Mutation / genetics
Ubiquitin-Protein Ligases / genetics

Substances

HECW2 protein, human
Ubiquitin-Protein Ligases