A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

doi:10.1016/j.ajhg.2008.10.003

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

Community

Back to search

Article

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

American journal of human genetics - 1 Nov 2008

Bassuk Alexander G, Wallace Robyn H, Buhr Aimee, Buller Andrew R, Afawi Zaid, Shimojo Masahito, Miyata Shingo, Chen Shan, Gonzalez-Alegre Pedro, Griesbach Hilary L, Wu Shu, Nashelsky Marcus, Vladar Eszter K, Antic Dragana, Ferguson Polly J, Cirak Sebahattin, Voit Thomas, Scott Matthew P, Axelrod Jeffrey D, Gurnett Christina, Daoud Azhar S, Kivity Sara, Neufeld Miriam Y, Mazarib Aziz, Straussberg Rachel, Walid Simri, Korczyn Amos D, Slusarski Diane C, Berkovic Samuel F, El-Shanti Hatem I

Abstract excerpt

Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

Share to Consanguinity

Share to Genes, Recessive

Share to LIM Domain Proteins

Share to Myoclonic Epilepsies, Progressive

Share to Physical Chromosome Mapping

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 18976727
DOI: 10.1016/j.ajhg.2008.10.003
PMCID: PMC2668041

Genes

PRICKLE1
REST
RILP

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.PMID 18976727Read ↗

Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.Semantic proximity Read ↗

Mutations in prickle orthologs cause seizures in flies, mice, and humans.Semantic proximity Read ↗

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.Semantic proximity Read ↗

Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitabilitySemantic proximity Read ↗

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.Semantic proximity Read ↗

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.Semantic proximity Read ↗

Analysis of <scp>PRICKLE</scp>1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformationsSemantic proximity Read ↗

HACE1 deficiency leads to structural and functional neurodevelopmental defectsSemantic proximity Read ↗

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.Semantic proximity Read ↗

Rare variants in<i>PPFIA3</i>cause delayed development, intellectual disability, autism, and epilepsySemantic proximity Read ↗

Identification of a candidate enhancer for DMRT3 involved in spastic cerebral palsy pathogenesis.Semantic proximity Read ↗

Excessive activation of the RAS/MAPK pathway triggers adult-onset motor axonal degenerationSemantic proximity Read ↗

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