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Scientific article
English

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

Contributors

Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; Lobrinus, Johannes Alexander; Bottani, Armand; Kern, Ilse; Kurian, Mary; Pittet, Marie-Pascale; Antonarakis, Stylianos; Fluss, Joel Victor; Korff, Christian

Published in

American Journal of Medical Genetics. A, vol. 173, no. 9, p. 2456-2460

Publication date

2017

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.

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

RANZA, Emmanuelle Nathalie et al. SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. In: American Journal of Medical Genetics. A, 2017, vol. 173, n° 9, p. 2456–2460. doi: 10.1002/ajmg.a.38317

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

1552-4825
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Technical informations

Creation

04/09/2017 15:23:00

First validation

04/09/2017 15:23:00

Update

15/03/2023 02:14:35

Status update

15/03/2023 02:14:34

Last indexation

31/10/2024 08:21:19
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