ArticleEpilepsy & behavior reports2021
A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.
Article in Epilepsy & behavior reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.Annals of neurology · 2025Article
- Expanding the spectrum ofFrontiers in genetics · 2025Article
- Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.Frontiers in genetics · 2024Article
- DHDDS and NUS1: A Converging Pathway and Common Phenotype.Movement disorders clinical practice · 2024Review
- Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed.
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