ArticleNeurology2012
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04023656 (Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea), which is not on this map. Cited by 50 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study
Who cites it
50 citing papers in PubMed, 114 citations in OpenAlex.
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- A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.Case reports in pediatrics · 2024Article
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.Advanced genetics (Hoboken, N.J.) · 2023Article
- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.Acta neurologica Belgica · 2022Article
- Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.Journal of neurology · 2022Article
- Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.Frontiers in pediatrics · 2022Article
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- Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.Brain : a journal of neurology · 2021Article
- Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.Molecular neurobiology · 2021Review
- Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.Experimental and therapeutic medicine · 2021Article
- Article
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9 authors at 1 institution in 1 country.
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Abstract
objectiveTo perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms.
methodsWe carried out a clinical and genealogic study of a 3-generation family and of 32 additional probands with BFIS (11 families), infantile convulsions and paroxysmal choreoathetosis (ICCA) (9 families), BFIS/generalized epilepsy with febrile seizures plus (5 families), and sporadic benign neonatal or infantile seizures (7 probands/families). We performed a genetic study consisting of linkage analysis and PRRT2 screening of the 33 probands/families.
resultsWe obtained a positive linkage in the 16p11.3-q23.1 chromosomal region in the large BFIS family. Mutation analysis of PRRT2 gene revealed a c.649dupC (p.Arg217Profs*8) in all affected individuals. PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands. Overall we found PRRT2 mutations in 11 probands with a mutation rate of 11 out of 33 (33%). BFIS co-occurred with migraine and febrile seizures in 2 families, with childhood absence epilepsy in one family and with hemiplegic migraine in one family.
conclusionOur results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include febrile seizures, childhood absence seizures, migraine, and hemiplegic migraine.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.