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Title

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

Authors
Garcia-Tarodo, Stephanie
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Published in American Journal of Medical Genetics. A. 2017, vol. 173, no. 9, p. 2456-2460
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.
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PMID: 28631894
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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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. https://archive-ouverte.unige.ch/unige:98401

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Deposited on : 2017-11-01

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