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

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.

Neuroscience letters - 27 Sept 2013

Wang Jun-Ling, Mao Xiao, Hu Zheng-Mao, Li Jia-Da, Li Nan, Guo Ji-Feng, Jiang Hong, Shen Lu, Li Jin, Shi Yu-Ting, Xia Kun, Liu Jing-Yu, Liao Wei-Ping, Tang Bei-Sha

Abstract excerpt

Benign familial infantile seizure (BFIS) and paroxysmal kinesigenic dyskinesia (PKD) are autosomal-dominant inherited self-limited neurological disorders. BFIS is characterized by clusters of epileptic seizures in infancy while, in some cases, infantile seizures and adolescent-onset paroxysmal kinesigenic choreoathetosis co-occurred, which is called infantile convulsions and choreoathetosis (ICCA) syndrome. We...

Read the complete abstract on PubMed

Topics

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

Share to Chorea
Share to Dyskinesias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to Epilepsy, Benign Neonatal

Share to Genetic Linkage

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Seizures

Source

Identifiers

PMID: 23896529
DOI: 10.1016/j.neulet.2013.07.020

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.PMID 23896529Read ↗

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.Semantic proximity Read ↗

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

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause 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 ↗

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

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.Semantic proximity Read ↗

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

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

Phenotypic variability and genetic characteristics of PRRT2-associated paroxysmal movement disorders in 13 Chinese familiesSemantic proximity Read ↗

Re-evaluation of PRRT2 mutations in paroxysmal disorders.Semantic proximity Read ↗

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese CohortSemantic proximity Read ↗

PRRT2 mutations are the major cause of benign familial infantile seizures.Semantic proximity Read ↗

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