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Last Updated: 10/31/2025
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Found 170 publications
Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: May 02, 2025
Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.
Journal: Journal of neurosurgery. Case lessons
Published: January 28, 2025
A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
Journal: Italian journal of pediatrics
Published: January 21, 2025
A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 19, 2024
Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India.
Journal: Journal of movement disorders
Published: October 27, 2024
Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia.
Journal: Seizure
Published: September 22, 2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Journal: Frontiers in neurology
Published: June 26, 2024
Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 02, 2024
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
Journal: BMC neurology
Published: December 26, 2023
Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.
Journal: Iranian journal of child neurology
Published: December 11, 2023
Last Updated: 10/31/2025