SERPINI1pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy
| Autor: | 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, Marie-Pascale Pittet |
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| Rok vydání: | 2017 |
| Předmět: |
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 |
| Zdroj: | American Journal of Medical Genetics. A, Vol. 173, No 9 (2017) pp. 2456-2460 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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