Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.

Journal of molecular neuroscience : MN - 1 Sept 2021

Li Qian, Liu Min, Huang Dan-Ping, Li Tao, Huang Jing, Jiang Ping, Ling Wei-Hao, Chen Xu-Qin

Abstract excerpt

Progressive myoclonic epilepsy is a group of neurodegenerative diseases with complex clinical and genetic heterogeneity, which is associated with spontaneous or action-induced myoclonus and progressive neurodegeneration. Since 2020, 4 families with progressive myoclonic epilepsy-11 [OMIM#618876] have been reported with a very limited spectrum of SEMA6B pathogenic variants. In our study, whole-exome sequencing was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myoclonic Epilepsies, Progressive

Share to Phenotype

Share to Semaphorins

Source

Identifiers

PMID: 34218423
DOI: 10.1007/s12031-021-01880-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.PMID 34218423Read ↗

A de novo SEMA6B variant in a Chinese patient with progressive myoclonic epilepsy-11 and review of the literatureSemantic proximity Read ↗

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.Semantic proximity Read ↗

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.Semantic proximity Read ↗

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Semantic proximity Read ↗

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.Semantic proximity Read ↗

A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.Semantic proximity Read ↗

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.Semantic proximity Read ↗

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Semantic proximity Read ↗

A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.Semantic proximity Read ↗

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.Semantic proximity Read ↗

Progressive Myoclonus EpilepsiesSemantic proximity Read ↗

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.