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SERPINI1 pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy
Author(s) -
Ranza Emmanuelle,
GarciaTarodo Stephanie,
Varvagiannis Konstantinos,
Guipponi Michel,
Lobrinus Johannes A.,
Bottani Armand,
Kern Ilse,
Kurian Mary,
Pittet MariePascale,
Antonarakis Stylianos E.,
Fluss Joel,
Korff Christian M.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38317
Subject(s) - epilepsy , myoclonic epilepsy , medicine , progressive myoclonus epilepsy , pediatrics , psychiatry
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.