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

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Seizure - 1 Oct 2024

De Dominicis Angela, Stregapede Fabrizia, Colona Vito Luigi, Nicita Francesco, Sartorelli Jacopo, Sparascio Francesca Piceci, Terracciano Alessandra, Novelli Antonio, Specchio Nicola, Bertini Enrico Silvio, Trivisano Marina

Abstract excerpt

PURPOSE: To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It is known that biallelic pathogenic variants in POLR3B cause hypomyelinating leukodystrophy-8, and heterozygous de novo variants are described in association to a phenotype characterized by predominantly...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsies, Myoclonic
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phenotype

Share to RNA Polymerase III

Source

Identifiers

PMID: 39178560
DOI: 10.1016/j.seizure.2024.08.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.PMID 39178560Read ↗

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.Semantic proximity Read ↗

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.Semantic proximity Read ↗

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.Semantic proximity Read ↗

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Striatal Variant of POLR3A: Report of Two Indian Cases.Semantic proximity Read ↗

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.Semantic proximity Read ↗

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.Semantic proximity Read ↗

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Semantic proximity Read ↗

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read ↗

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