Article
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
American journal of medical genetics. Part A - 1 Sept 2017
Ranza Emmanuelle, Garcia-Tarodo Stephanie, Varvagiannis Konstantinos, Guipponi Michel, Lobrinus Johannes A, Bottani Armand, Kern Ilse, Kurian Mary, Pittet Marie-Pascale, Antonarakis Stylianos E, Fluss Joel, Korff Christian M
Abstract excerpt
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...
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