Ask about this productRelated genes to: EPM2A antibody
- Gene:
- EPM2A NIH gene
- Name:
- EPM2A glucan phosphatase, laforin
- Previous symbol:
- -
- Synonyms:
- LDE, LD
- Chromosome:
- 6q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-01
- Date modifiied:
- 2019-01-25
Related products to: EPM2A antibody
Related articles to: EPM2A antibody
- Lafora disease is a rare genetic progressive myoclonic epilepsy characterized by the onset of epileptic seizures and myoclonus during adolescence, followed by a rapid progression toward neurodegeneration. However, an often underrecognized aspect of this condition is the presence of psychiatric manifestations, particularly depressive and psychotic disorders, which may emerge prior to or concurrently with the neurological symptoms. We report the case of a 39-year-old woman with biopsy-confirmed Lafora disease whose psychiatric symptoms preceded the onset of neurological manifestations by several years. Between the ages of 12 and 16 years, she presented with recurrent suicidal behavior, episodes of wandering, severe depressive symptoms, and psychotic manifestations, including auditory and visual hallucinations, persecutory delusions, and behavioral disturbances, initially leading to psychiatric diagnoses and treatment. Neurological symptoms appeared later at the age of 20 years, with visual hallucinations followed by generalized tonic-clonic seizures, progressive myoclonus, and cognitive decline. The diagnosis of Lafora disease was ultimately confirmed by axillary skin biopsy, demonstrating periodic acid-Schiff (PAS)-positive Lafora bodies. This case highlights the importance of a detailed investigation into the early presentation and longitudinal evolution of these psychiatric manifestations in order to distinguish them from primary psychiatric disorders and to consider them as potential clinical clues that may precede the neurological manifestations of Lafora disease. Recognition of these manifestations may facilitate consideration of an earlier diagnosis of Lafora disease and help reduce diagnostic delay in adolescents presenting with atypical psychiatric symptoms. Furthermore, this work stresses the importance of structured interdisciplinary collaboration between neurologists and psychiatrists in the management of progressive myoclonic epilepsies and the need to develop and implement standardized recommendations for psychiatric screening in at-risk adolescents. - Source: PubMed
Publication date: 2026/06/25
Kaddaf AnouarSatte AmalBourazza AhmedKadiri Mohamed - Lafora disease (LD) and Unverricht-Lundborg disease (EPM1A) are the most common forms of progressive myoclonic epilepsy and are frequently associated with photosensitivity and photic reflex myoclonus (PRM). This study aimed to characterize the photoparoxysmal response (PPR), evaluate the effect of blue lenses, and explore the neural networks underlying PPR and PRM in both conditions. - Source: PubMed
Publication date: 2026/07/25
Canafoglia LauraPesce LorellaCaputo DavideMelillo FedericaBattaglia GiuliaRossi Sebastiano DavideDuran DunjaMaccanti GiuliaJocic-Jakubi BosankaKasteleijn-Nolst Trenite DorotheeFranceschetti SilvanaVisani Elisa - Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3-6, 2026. This article provides summaries of eight treatments in preclinical and early clinical development that were presented at EILAT XVIII. These include AUT00206, a positive allosteric modulator of Kv3.1 and Kv3.2 voltage-gated potassium channels in development for the treatment of rare epilepsy syndromes as well as neurodevelopmental and neuropsychiatric disorders; ION283, an antisense oligonucleotide designed to suppress the expression of glycogen synthase 1, under investigation for the treatment of Lafora disease; MSCA-7136, a selective allosteric RAS/mitogen-activated protein kinase-extracellular signal regulated kinase (MEK) inhibitor being developed for the treatment of focal seizures associated with mesial temporal lobe epilepsy and seizures associated with tuberous sclerosis complex; OV329, a selective inhibitor of γ-aminobutyric acid (GABA) aminotransferase, in development for the treatment of drug-resistant focal seizures; PTI5803 (probenecid), an uricosuric agent and a blocker of pannexin 1 channels, repurposed as a treatment for seizures associated with focal cortical dysplasia; simufilam, a filamin A modulator under investigation for the treatment of tuberous sclerosis complex-related epilepsy; SN-2000, a selective allosteric phosphodiesterase 4B inhibitor, in development for the treatment of focal seizures; and sodium selenate, a promoter of the dephosphorylation of pathological hyperphosphorylated tau in the brain, under investigation as a disease-modifying agent in mesial temporal lobe epilepsy. Treatments in more advanced clinical development are discussed in an accompanying article. - Source: PubMed
Publication date: 2026/07/18
Bialer MeirJohannessen Landmark CecilieKoepp Matthias JPerucca EmilioPerucca PieroTomson TorbjörnWhite H SteveWirrell Elaine - Lafora disease (LD) is a fatal neurodegenerative disorder caused by mutations in the or genes, encoding Laforin and Malin, respectively. While the Laforin/Malin E3-ubiquitin ligase complex is a known regulator of canonical autophagy and glycogen metabolism, its role in non-canonical autophagy pathways remains unexplored. Given that neuroinflammation is a hallmark of LD, we investigated the relationship between the Laforin/Malin complex and Rubicon, a critical regulator of LC3-associated phagocytosis (LAP) and LC3-associated endocytosis (LANDO). In this work, we identify Rubicon as a novel substrate and binding partner of the Laforin/Malin complex. Co-immunoprecipitation and confocal microscopy assays in HEK293 and U2OS cells demonstrated that Malin physically interacts with Rubicon, promoting its K63-linked polyubiquitination. This post-translational modification adds another layer of control to the regulation of Rubicon in specific cellular contexts. To determine the functional relevance of this interaction in LD, we assessed LAP and LANDO in primary astrocytes from Malin-deficient mice. Using flow cytometry, we quantified the engulfment and degradation of Zymosan particles and microglial debris (LAP), as well as EGF receptor internalization (LANDO). Surprisingly, no significant functional impairments were observed in Malin-deficient astrocytes compared to WT controls. These findings suggest that while the Laforin/Malin complex regulates Rubicon via K63-linked ubiquitination, redundant signaling nodes may preserve non-canonical autophagy output in Malin-deficient astrocytes. - Source: PubMed
Publication date: 2026/06/26
Baños-Carrión LauraGarcía-Gimeno Maria AdelaidaSanz Pascual - Lafora disease (LD) is a rare and severe form of progressive myoclonus epilepsy characterized by cognitive decline that ultimately leads to dementia. However, its cognitive features and adaptive functioning remain poorly understood. This study aimed to characterize the neuropsychological profile of LD and its progression. - Source: PubMed
Publication date: 2026/07/10
Mazzone SerenaMuccioli LorenzoTappatà MariaPasini ElenaBifolchi GiovanniPietrafusa NicolaBruschi GiuliaMinassian Berge AMichelucci RobertoBisulli Francesca