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Article

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation.

Brain & development - 1 Feb 2014

Fusco Carlo, Russo Angelo, Invernizzi Federica, Frattini Daniele, Pisani Francesco, Garavaglia Barbara

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Source

Identifiers

PMID: 24074546
DOI: 10.1016/j.braindev.2013.09.001

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation.PMID 24074546Read ↗

[PRRT2 gene-related paroxysmal disorders].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 ↗

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

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.Semantic proximity Read ↗

[PRRT2 mutation and infantile convulsions].Semantic proximity Read ↗

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.Semantic proximity Read ↗

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

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

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

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

Unusual variability of PRRT2 linked phenotypes within a family.Semantic proximity Read ↗

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

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