Lafora Disease Latest Advances

Find the Latest Research About Lafora Disease

Last Updated: 06/30/2026

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Found 1675 publications

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Journal: Journal of child neurology
Published: May 23, 2026

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11-year longitudinal study and proposed diagnostic red flags.

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11-year longitudinal study and proposed diagnostic red flags.

Journal: Epilepsia open
Published: February 26, 2026

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease.

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: February 25, 2026

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report.

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report.

Journal: Yonago acta medica
Published: February 22, 2026

SEMA6B-Related Progressive Myoclonic Epilepsy Mimicking Angelman Syndrome.

SEMA6B-Related Progressive Myoclonic Epilepsy Mimicking Angelman Syndrome.

Journal: Movement disorders clinical practice
Published: February 12, 2026

Alternating hemispheric focal status epilepticus : An atypical presentation of genetically confirmed case of MERRF syndrome.

Alternating hemispheric focal status epilepticus : An atypical presentation of genetically confirmed case of MERRF syndrome.

Journal: Seizure
Published: February 10, 2026

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

Journal: Genes
Published: February 06, 2026

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.

Journal: Cureus
Published: January 26, 2026

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation.

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: January 14, 2026

CAG-targeting artificial miRNA with reduced off-target risk for efficient lowering of pathogenic polyglutamine proteins.

CAG-targeting artificial miRNA with reduced off-target risk for efficient lowering of pathogenic polyglutamine proteins.

Journal: NAR molecular medicine
Published: January 08, 2026

Reduced Dopamine Transporter Uptake in Dentatorubral-Pallidoluysian Atrophy.

Reduced Dopamine Transporter Uptake in Dentatorubral-Pallidoluysian Atrophy.

Journal: Movement disorders clinical practice
Published: December 31, 2025

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

Journal: Journal of investigative medicine high impact case reports
Published: December 23, 2025
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Last Updated: 06/30/2026