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Am J Med Genet A. 2017 Sep;173(9):2456-2460. doi: 10.1002/ajmg.a.38317. Epub 2017 Jun 20.

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Author information

1
Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
2
Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
3
Neuropathology Unit, Department of Clinical Pathology, Geneva University Hospitals, Geneva, Switzerland.
4
Pediatric Metabolism Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
5
Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, Switzerland.
6
iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.

Abstract

Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies.

KEYWORDS:

SERPINI1; childhood; neuroserpin; progressive myoclonic epilepsy

PMID:
28631894
DOI:
10.1002/ajmg.a.38317
[Indexed for MEDLINE]

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