ArticleHuman genome variation2023
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.
Article in Human genome variation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 1 citations in OpenAlex.
- [Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.NPJ genomic medicine · 2026Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.3586C>T, p.(Leu1196Phe) and c.3590C>T, p.(Ala1197Val) in NF1 located in cis and c.1042G>C, p.(Ala348Pro) in GABBR1. This study contributes to our understanding of the effect of two cis variants on NF1 phenotypes and GABBR1-related neuropsychiatric disorders.
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