Results 71 to 80 of about 1,886 (182)

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

Epilepsia, Volume 66, Issue 11, Page 4107-4121, November 2025.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu, Yi Ge, Ruyi Wang, Yang Zheng, Jiping Zhou, Zhongjin Wang, Chunhong Shen, Shan Wang, Lingli Hu, Bo Wang, Zhidong Cen, Wei Luo, Meiping Ding, Shuang Wang, Yao Ding   +14 more
wiley   +1 more source

Single‐Voxel Proton Magnetic Resonance Spectroscopy Findings at 3 Tesla in a Dog With Gliomatosis Cerebri

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Gliomatosis cerebri (GC) represents an antemortem diagnostic challenge in the absence of histopathology. Proton magnetic resonance spectroscopy (1H‐MRS) features of the disease in humans include elevated myo‐inositol (mI)‐to‐creatine and decreased N‐acetyl‐aspartate (NAA)‐to‐creatine ratios.
Péter Sebestyén, Chris Staudinger, Robert Herzig, Anna Oevermann, Lorenzo Golini, Niklaus Zölch, Katrin Beckmann   +6 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole

Frontiers in Neuroscience, 2014
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin.
Ana M García-Cabrero, Ana M García-Cabrero, Gentzane eSánchez-Elexpuru, Gentzane eSánchez-Elexpuru, José M Serratosa, José M Serratosa, Marina P Sanchez, Marina P Sanchez   +7 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Longitudinal EEG Studies in a Kindred with Lafora Disease [PDF]

, 1991
We reviewed 18 EEG studies in four members of a family with the Lafora form of progressive myoclonic epilepsy. Each patient was the product of a consan-guinous marriage and presented as a teenager with progressive seizures, myoclonus, dementia, and ...
I. Drury, Drury, Ivo, C. Yen, A. Beydoun, Yen, C., Beydoun, Ahmad A.   +5 more
core   +1 more source

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance

Frontiers in Pediatrics, 2019
Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline, culminating in death within 10 years.
Ramona C. Nicolescu, Sara Al-Khawaga, Berge A. Minassian, Khalid Hussain   +3 more
doaj   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, Volume 98, Issue 3, Page 561-572, September 2025.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Presentation of an unusual patient with Lafora disease

, 2012
Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic-clonic seizures at the age of 30 ...
Naci Karaağac, Caglayan, Hande, Kiziltan, Meral, Leblebici, Cem, Selim Gökdemir, Meral Kızıltan, Cem Leblebici, Gokdemir, Selim, Hande Çağlayan, S Naz Yeni, Karaagac, Naci, Yeni, S. Naz   +11 more
core   +1 more source

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

Neurobiology of Disease, 2011
Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin.
Jaiprakash Sharma, Sudheendra N.R. Rao, Susarla Krishna Shankar, Parthasarathy Satishchandra, Nihar Ranjan Jana   +4 more
doaj   +1 more source