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

Italian journal of pediatrics - 4 Dec 2019

Pavone Piero, Corsello Giovanni, Cho Sung Yoon, Pappalardo Xena Giada, Ruggieri Martino, Marino Simona Domenica, Jin Dong Kyu, Marino Silvia, Falsaperla Raffaele

Abstract excerpt

BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia....

Read the complete abstract on PubMed

Topics

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

Share to Magnetic Resonance Imaging
Share to Microcephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to Rare Diseases

Share to Risk Assessment

Share to Seizures

Share to Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 31801583
DOI: 10.1186/s13052-019-0755-2
PMCID: PMC6894132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?PMID 31801583Read ↗

The evolving spectrum of PRRT2-associated paroxysmal diseases.Semantic proximity Read ↗

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

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.Semantic proximity Read ↗

PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.Semantic proximity Read ↗

Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.Semantic proximity Read ↗

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.Semantic proximity Read ↗

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

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.Semantic proximity Read ↗

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients.Semantic proximity Read ↗

PRRT2 mutations and paroxysmal disorders.Semantic proximity Read ↗

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.Semantic proximity Read ↗

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