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

[PRRT2 mutation and infantile convulsions].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Oct 2017

Mathot M, Lederer D, Gerard S, Gueulette E, Deprez M

Abstract excerpt

New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial...

Read the complete abstract on PubMed

Topics

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

Share to PRRT2 gene
Share to Infant
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nerve Tissue Proteins

Share to Seizures

Source

Identifiers

PMID: 28870817
DOI: 10.1016/j.arcped.2017.08.004

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[PRRT2 mutation and infantile convulsions].PMID 28870817Read ↗

PRRT2 is mutated in familial and non-familial benign infantile seizures.Semantic proximity Read ↗

The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.Semantic proximity Read ↗

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

[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].Semantic proximity Read ↗

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Semantic proximity Read ↗

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.Semantic proximity Read ↗

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?Semantic proximity Read ↗

PRRT2 mutation causes benign familial infantile convulsions.Semantic proximity Read ↗

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.Semantic proximity Read ↗

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.Semantic proximity Read ↗

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.Semantic proximity Read ↗

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.Semantic proximity Read ↗

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