ArticleMolecular neurobiology2016
Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
Article in Molecular neurobiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Oxcarbazepine may be an effective option for Chinese pediatric patients with self-limited focal epilepsy of neonatal/infantile onset: a retrospective cohort study.Frontiers in pediatrics · 2025Article
- Identification ofFrontiers in genetics · 2022Article
- Digenic Variants in theFrontiers in neuroscience · 2021Article
- Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.Bioscience reports · 2020Article
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.Behavioural neurology · 2020Article
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Molecular genetics & genomic medicine · 2019Article
- Identifying aBioscience reports · 2019Article
- Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Journal of molecular neuroscience : MN · 2018Article
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Oncotarget · 2016Article
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.International journal of molecular sciences · 2015Article
- GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.Genetics and molecular biologyArticle
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Febrile seizures (FS), the most frequent type of seizures in children, occur in neurologically normal infants and children between the ages of 3 months and 5 years with genetic predisposition. The aim of this study was to identify the responsible gene in a four-generation Chinese Han pedigree with autosomal dominant FS. Seven family members (three affected and four unaffected) were enrolled in this study. Exome sequencing was conducted and a duplication mutation c.649dupC (p.R217Pfs*8) in the proline-rich transmembrane protein 2 gene (PRRT2) was identified. The mutation co-segregated with the disorder and was absent in normal controls. To our knowledge, this is the first report of a pedigree with complete penetrance of FS, which is caused by mutation in the PRRT2 gene. FS is a novel phenotype of the c.649dupC (p.R217Pfs*8) mutation. Our discovery broadens the spectrum of genetic causes of FS and the spectrum of phenotypes linked to mutation in the PRRT2 gene.
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