1. SERPINI1pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy
- Author
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Michel Guipponi, Christian Korff, Stylianos E. Antonarakis, Emmanuelle Ranza, Armand Bottani, Stephanie Garcia-Tarodo, Mary Kurian, Konstantinos Varvagiannis, Ilse Kern, Joel Victor Fluss, Johannes Alexander Lobrinus, and Marie-Pascale Pittet
- Subjects
Male ,0301 basic medicine ,Adolescent ,Progressive myoclonus epilepsy ,ddc:616.07 ,Bioinformatics ,03 medical and health sciences ,0302 clinical medicine ,Neuroserpin ,Genetics ,Humans ,Medicine ,ddc:576.5 ,Age of Onset ,Child ,Serpins ,Genetics (clinical) ,ddc:618 ,business.industry ,Genetic heterogeneity ,Neuropeptides ,Myoclonic Epilepsies, Progressive ,medicine.disease ,030104 developmental biology ,Mutation ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2017