Article

Bi-allelic variants in <i>TSPOAP1</i> , encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

2020-05-25

Abstract excerpt

<h4>ABSTRACT</h4> Dystonia is a debilitating hyperkinetic movement disorder, frequently transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1 , encoding the active zone RIM-binding protein 1 (RIMBP1), as a novel genetic cause of autosomal recessive dystonia in seven subjects from three unrelated families. Subjects carrying loss-of-function variants p...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 94e57403-902f-5075-a528-afdca9765642
DOI: 10.1101/2020.05.24.086215

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic variants in <i>TSPOAP1</i> , encoding the active zone protein RIMBP1, cause autosomal recessive dystoniaDOI 10.1101/2020.05.24.086215Read

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.Semantic proximity Read

Biallelic variants in <i>ARHGAP19</i> cause a motor-predominant neuropathy with asymmetry and conduction slowingSemantic proximity Read

Dystonia-specific mutations in <i>THAP1</i> alter transcription of genes associated with neurodevelopment and myelinSemantic proximity Read

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.Semantic proximity Read

<i>KCNMA1</i> -linked channelopathySemantic proximity Read

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresSemantic proximity Read

Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm <scp> <i>TMEM151A</i> </scp> as a Novel Causative GeneSemantic proximity Read

Integrative Genetic and Pathway Profiling Reveals the Molecular Landscape of DystoniaSemantic proximity Read

Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth diseaseSemantic proximity Read

Expanding the genotype and phenotype spectrum of <i>SYT1</i>-associated neurodevelopmental disorderSemantic proximity Read

Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.Semantic proximity Read

Episodic neurologic disorders: syndromes, genes, and mechanisms.Semantic proximity Read