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Article

A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.

Acta neurologica Belgica - 1 Jun 2022

Soleimanipour Fardin, Razmara Ehsan, Rahbarizadeh Fatemeh, Fallahi Elnaz, Khodaeian Mehrnoosh, Tavasoli Ali Reza, Garshasbi Masoud

Abstract excerpt

Progressive myoclonus epilepsies (PMEs) are a group of disorders embracing myoclonus, seizures, and neurological dysfunctions. Because of the genetic and clinical heterogeneity, a large proportion of PMEs cases have remained molecularly undiagnosed. The present study aimed to determine the underlying genetic factors that contribute to the PME phenotype in an Iranian female patient. We describe a consanguineous...

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Share to Genetics and Neurodevelopmental Disorders
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Myoclonic Epilepsies, Progressive

Share to Neurological disorders and treatments

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Source

Identifiers

PMID: 33783721
DOI: 10.1007/s13760-021-01650-0

Provenance

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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