ArticleInternal medicine (Tokyo, Japan)2025
Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.
Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Some copy number variations (CNVs) in DNA are associated with the development of pathological phenotypes. Regarding the diagnosis of recurrent radial nerve palsies, a 73-year-old female patient with intractable epilepsy and intellectual disability was diagnosed with duplicated 15q11.1-11.2, in addition to a deletion of 17p12, causing hereditary neuropathy with liability to pressure palsies. CNVs in 15q11.1-11.2 have been reported in patients with schizophrenia and autism. Although CNVs are also sometimes seen in healthy individuals, duplicated 15q11.1-11.2 could be associated with CNS symptoms in this patient.
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