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Article

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Epilepsia open - 1 Jun 2023

Castellotti Barbara, Canafoglia Laura, Freri Elena, Tappatà Maria, Messina Giuliana, Magri Stefania, DiFrancesco Jacopo C, Fanella Martina, Di Bonaventura Carlo, Morano Alessandra, Granata Tiziana, Gellera Cinzia, Franceschetti Silvana, Michelucci Roberto

Abstract excerpt

Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of aberrant proteins with toxic gain of function. Herein, we describe three adjunctive patients carrying de novo...

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Identifiers

PMID: 36719163
DOI: 10.1002/epi4.12697
PMCID: PMC10235579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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