ArticleFrontiers in molecular neuroscience2022
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in
Article in Frontiers in molecular neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Distinguishing Loss-of-Function and Gain-of-FunctionNeurology. Genetics · 2023Article
- Identification of five novelFrontiers in behavioral neuroscience · 2023Article
- A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.Cellular & molecular biology letters · 2022Article
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Authors and funding
11 authors.
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Abstract
Objective: Naturally occurring in-frame deletion is a unique type of genetic variations, causing the loss of one or more amino acids of proteins. A number of in-frame deletion variants in an epilepsy-associated gene Methods: We summarized the basic information of forty-four Results: Reviewing all the in-frame deletions showed that they spread over the entire Na Significance: The complete loss-of-function in these shortened, abnormal mutants indicates that Na
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