ArticleNeurology2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 83 citations in OpenAlex.
- Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.Journal of human genetics · 2018Trial
- Article
- Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.European journal of human genetics : EJHG · 2024Article
- Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.International journal of molecular sciences · 2023Article
- Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy.BMC pediatrics · 2023Article
- Update on benign convulsions with mild gastroenteritis.Clinical and experimental pediatrics · 2022Article
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.Frontiers of medicine · 2021Article
- Association ofNeurology · 2021Article
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
- The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.Biomedicines · 2020Article
- Novel mutation of theBiomedical reports · 2020Article
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.Behavioural neurology · 2020Article
- Compound heterozygosity withEpilepsy & behavior case reports · 2019Article
- Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.Epilepsy research · 2017Review
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.Epilepsia · 2017Article
- The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.Neurobiology of disease · 2017Article
- Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.The Journal of clinical investigation · 2017Article
- Paroxysmal kinesigenic dyskinesia in a patient with aKorean journal of pediatrics · 2016Article
- Article
- Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.Scientific reports · 2016Article
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveBenign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations.
methodsForty-four probands with infantile-onset seizures, infantile convulsions with mild gastroenteritis, and benign neonatal seizures underwent detailed phenotyping and PRRT2 sequencing. The familial segregation of mutations identified in probands was studied.
resultsThe PRRT2 mutation c.649-650insC (p.R217fsX224) was identified in 11 probands. Nine probands had a family history of BFIE or ICCA. Two probands had no family history of infantile seizures or paroxysmal kinesigenic dyskinesia and had de novo PRRT2 mutations. Febrile seizures with or without afebrile seizures were observed in 2 families with PRRT2 mutations.
conclusionsPRRT2 mutations are present in >80% of BFIE and >90% ICCA families, but are not a common cause of other forms of infantile epilepsy. De novo mutations of PRRT2 can cause sporadic benign infantile seizures. Seizures with fever may occur in BFIE such that it may be difficult to distinguish BFIE from febrile seizures and febrile seizures plus in small families.
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