ArticleCytoskeleton (Hoboken, N.J.)2019
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
Article in Cytoskeleton (Hoboken, N.J.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.European journal of neurology · 2026Observational
- SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case.Frontiers in genetics · 2026Article
- Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.Frontiers in pediatrics · 2025Article
- If SARS-CoV-2 vaccination is blamed for Parsonage-Turner syndrome, neurosurgical neurolysis is not indicated.Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia · 2024Article
- Clinical Reasoning: A 26-Year-Old Woman With Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium.Neurology · 2023Article
- Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.Thrombosis and haemostasis · 2022Article
- Role of Septins in Endothelial Cells and Platelets.Frontiers in cell and developmental biology · 2021Review
- Neuralgic Amyotrophy: Its Importance in Orthopedics Practice.Spine surgery and related research · 2021Review
- Brachial Plexopathies: Update on Treatment.Current treatment options in neurology · 2019Review
- Herpes zoster increased risk of neuralgic amyotrophy: a retrospective, population-based matched cohort study.Journal of neurovirology · 2019Article
- Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.Cytoskeleton (Hoboken, N.J.) · 2019Article
- A homozygous genome-edited Sept2-EGFP fibroblast cell line.Cytoskeleton (Hoboken, N.J.) · 2019Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of the brachial plexus. In this study, we report on a family of Lebanese descent with HNA onset in early childhood. The affected family members presented with platelet dysfunction. Platelet aggregation was reduced after stimulation with the agonists ADP and epinephrine in all affected family members. Flow cytometric analyses revealed impaired platelet δ-secretion. The index patient and one brother suffered from kidney cysts. Molecular genetic analysis revealed a heterozygous duplication of exon 2 within the septin 9 (SEPT9) gene in all the affected family members. Such a young child with HNA (aged 2 years) caused by SEPT9 duplication has not been described so far.
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Registered trials
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