Results 61 to 70 of about 4,199 (162)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 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

Alterations in EGF-Endocytosis, Lysosomal Enzyme Transport and Maturation of Cathepsins in Juvenile Neuronal Ceroid Lipofuscinosis Fibroblasts

International Clinical Neuroscience Journal, 2020
Background: Juvenile neuronal ceroid lipofuscinosis (JNCL), one of the most frequent forms of the NCL storage diseases, is known to be caused by loss-of-function mutations in ceroid-lipofuscinosis neuronal protein 3 (CLN3), but its cell function has not ...
Jaime Cárcel-Trullols
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

Regulation of the Cln3–Cdc28 kinase by cAMP in Saccharomyces cerevisiae [PDF]

The EMBO Journal, 1998
The yeast Saccharomyces cerevisiae grows at widely varying rates in different growth media. In order to maintain a relatively constant cell size, yeast cells must regulate the rate of progress through the cell cycle to match changes in growth rate, moving quickly through G1 in rich medium, and slowly in poor medium. We have examined connections between
D D, Hall, D D, Markwardt, F, Parviz, W, Heideman   +3 more
openaire   +2 more sources

Molecular mechanisms of Eda‐mediated adaptation to freshwater in threespine stickleback

Molecular Ecology, Volume 34, Issue 15, August 2025.
Abstract A main goal of evolutionary biology is to understand the genetic basis of adaptive evolution. Although the genes that underlie some adaptive phenotypes are now known, the molecular pathways and regulatory mechanisms mediating the phenotypic effects of those genes often remain a black box.
Carlos E. Rodríguez‐Ramírez, Melanie Hiltbrunner, Verena Saladin, Stephanie Walker, Araxi Urrutia, Catherine L. Peichel   +5 more
wiley   +1 more source

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

Neurobiology of Disease, 2011
Juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease is an autosomal recessive neurodegenerative disorder of children caused by mutation in CLN3.
Song-Lin Ding, Luis Tecedor, Colleen S. Stein, Beverly L. Davidson   +3 more
doaj   +1 more source

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

Annals of Neurology, Volume 98, Issue 1, Page 35-47, July 2025.
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner, Eliza Honybun, Melanie Bahlo, Karen L. Oliver, Ingrid E. Scheffer   +4 more
wiley   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Annals of Clinical and Translational Neurology, 2018
Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 more
doaj   +1 more source