ArticleAmerican journal of human genetics1997
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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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.
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Who cites it
52 citing papers in PubMed, 299 citations in OpenAlex.
- Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.Journal of human genetics · 2018Trial
- PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.PloS one · 2012Trial
- Paroxysmal Dyskinesias Secondary to HHV-6A Encephalitis: The First Case Report and Literature Review.Annals of clinical and translational neurology · 2025Review
- Beyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia.Annals of medicine and surgery (2012) · 2025Article
- Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.Epilepsia open · 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
- Characteristics of infantile convulsions and choreoathetosis syndrome caused byPediatric investigation · 2022Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
- The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.Frontiers in pediatrics · 2021Article
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.Behavioural neurology · 2020Article
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Paroxysmal kinesigenic dyskinesia in a patient with aKorean journal of pediatrics · 2016Article
- Thalamic involvement in paroxysmal kinesigenic dyskinesia: a combined structural and diffusion tensor MRI analysis.Human brain mapping · 2015Article
- Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series.Journal of medical case reports · 2014Article
- Epilepsy: old syndromes, new genes.Current neurology and neuroscience reports · 2014Review
- Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.BMC neurology · 2013Article
- Episodic movement disorders: from phenotype to genotype and back.Current neurology and neuroscience reports · 2013Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic syndromes. Paroxysmal choreoathetosis is an involuntary-movement disorder characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Classification is still elusive, and the epileptic nature of this movement disorder has long been discussed and remains controversial. We have studied four families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The human genome was screened with microsatellite markers regularly spaced, and strong evidence of linkage for the disease gene was obtained in the pericentromeric region of chromosome 16, with a maximum two-point LOD score, for D16S3133, of 6.76 at a recombination fraction of 0. Critical recombinants narrowed the region of interest to a 10-cM interval around the centromere. Our study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes.
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Registered trials
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.