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

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.

Parkinsonism & related disorders - 1 Aug 2020

Necpál Ján, Zech Michael, Valachová Alica, Sedláček Zdeněk, Bendová Šárka, Hančárová Miroslava, Okáľová Katarína, Winkelmann Juliane, Jech Robert

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Dyskinesias
Share to Epilepsy
Share to GTP-Binding Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 32653842
DOI: 10.1016/j.parkreldis.2020.06.028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.PMID 32653842Read ↗

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.Semantic proximity Read ↗

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.Semantic proximity Read ↗

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Semantic proximity Read ↗

The clinical and genetic heterogeneity of paroxysmal dyskinesias.Semantic proximity Read ↗

[PRRT2 gene-related paroxysmal disorders].Semantic proximity Read ↗

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Semantic proximity Read ↗

Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.Semantic proximity Read ↗

PRRT2 mutations and paroxysmal disorders.Semantic proximity Read ↗

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderSemantic proximity Read ↗

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.Semantic proximity Read ↗

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

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.Semantic proximity Read ↗

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