Results 41 to 50 of about 944 (117)

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, Volume 66, Issue 8, Page 2966-2979, August 2025.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient

Stem Cell Research
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease.
Gabriele Trentini, Giulia Cazzanelli, Marina Cardano, Orazio Palumbo, Mario Benvenuto, Pietro Palumbo, Francesca Agriesti, Claudia Piccoli, Luciano Conti, DEFEAT-LD Study Group, Massimo Carella, Graziano Lolli, Giuseppe d’Orsi   +12 more
doaj   +1 more source

A PTG variant contributes to a milder phenotype in Lafora disease.

PLoS ONE, 2011
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may
Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre   +12 more
doaj   +1 more source

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Glial Alterations in the Glutamatergic and GABAergic Signalling Pathways in a Mouse Model of Lafora Disease, a Severe Form of Progressive Myoclonus Epilepsy

Neuropathology and Applied Neurobiology, Volume 51, Issue 2, April 2025.
Alterations in glutamatergic receptors (GluK2), GABA transporter 1 (GAT1) and Lyn kinase (pLyn) in astrocytes, and glutamate receptors (pGluN2B) and Src kinase (pSrc) in microglia, may lead to hyperexcitability in Lafora disease (LD) mice. ABSTRACT Aims Lafora disease (LD; OMIM#254780) is a rare form of progressive myoclonus epilepsy characterised by ...
Rosa Viana, Teresa Rubio, Ángela Campos‐Rodríguez, Pascual Sanz   +3 more
wiley   +1 more source

Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach

Epilepsia Open, Volume 9, Issue 5, Page 1922-1930, October 2024.
Abstract Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatments. Methods In this retrospective observational study, we consecutively recruited patients with pediatric ...
Barbara Castellotti, Francesca Ragona, Elena Freri, Giuliana Messina, Stefania Magri, Roberto Previtali, Roberta Solazzi, Silvana Franceschetti, Franco Taroni, Laura Canafoglia, Cinzia Gellera, Tiziana Granata, Jacopo C. DiFrancesco   +12 more
wiley   +1 more source

Rare and common variants associated with alcohol consumption identify a conserved molecular network

Alcohol, Clinical and Experimental Research, Volume 48, Issue 9, Page 1704-1715, September 2024.
Genetic studies of alcohol consumption have examined both common and rare genetic variants. We showed that genes identified by these two approaches belong to a single shared molecular network. The genes in this network included genes involved in alcohol metabolism, genes previously implicated in alcohol use disorder and other substance use disorders ...
Brittany S. Leger, John J. Meredith, Trey Ideker, Sandra Sanchez‐Roige, Abraham A. Palmer   +4 more
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +2 more sources

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract RBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1 ...
Haley M. Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
wiley   +1 more source

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness

ESC Heart Failure, Volume 11, Issue 3, Page 1472-1482, June 2024.
Abstract Aims Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review ...
MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia   +6 more
wiley   +1 more source