ArticleCase reports in neurological medicine2014
Menkes disease presenting with epilepsia partialis continua.
Article in Case reports in neurological medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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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
6 citing papers in PubMed.
- Epilepsia partialis continua: A review.Neurosciences (Riyadh, Saudi Arabia) · 2024Review
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- Neuroimaging Changes in Menkes Disease, Part 2.AJNR. American journal of neuroradiology · 2017Review
- Neuroimaging Changes in Menkes Disease, Part 1.AJNR. American journal of neuroradiology · 2017Review
- Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?Case reports in neurological medicine · 2015Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.
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Registered trials
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