Berge Arakel Minassian

Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior

This study shows that malin-deficient mice accumulate Lafora bodies without observable neurobehavioral decline, suggesting a delay between LB accumulation and clinical symptoms.

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

This study shows that Gys1 antisense therapy reduces Lafora body formation and neuroinflammation in mouse models of Lafora disease.

Targeting Gys1 with AAV-SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse models

This study uses AAV-delivered CRISPR/Cas9 to target Gys1 in mouse models of neurodegenerative diseases, reducing polyglucosan bodies and neuroinflammation.

A new drug candidate for glycogen storage disorders enhances glycogen catabolism: Lessons from Adult Polyglucosan Body Disease models

This study demonstrates that 144DG11 improves survival and motor function in APBD mouse models by promoting autophagic glycogen catabolism through LAMP1 interaction.

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.

Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

This study shows that RBCK1 deficiency in mice leads to brain polyglucosan accumulation and neurodegeneration, similar to Lafora disease but with distinct regional and subcellular features.