SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Article
in En
| MEDLINE
| ID: mdl-28631894
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neuropeptides
/
Serpins
/
Myoclonic Epilepsies, Progressive
Limits:
Adolescent
/
Child
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2017
Document type:
Article
Affiliation country:
Switzerland