Results 41 to 50 of about 2,498 (170)
Neuronal Ceroid Lipofuscinosis in a Border Collie Dog [PDF]
, 2014 Neuronal ceroid lipofuscinosis is an inherited, neurodegenerative lysosomal storage disease that affects humans, dogs, sheep, horses and cattle. Border Collies are affected in an autosomal recessive manner and serve as a model for CLN5, also known as ...
Enders, Andrew M.
core +4 more sources
The First Neural Ceroid Lipofuscinosis Type 2 Case in Ecuador: A Case Report [PDF]
, 2023 Neuronal ceroid lipofuscinosis type 2 is a neurodegenerative disease of autosomal recessive inheritance that produces an accumulation of ceroid lipofuscin in the brain and retina.
Alejandra, Medina Parra Karen +3 more
core +1 more source
, 2011 This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ...
Sara E. Mole +6 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio +9 more
wiley +1 more source
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8 [PDF]
, 2021 BACKGROUND: Ceroid lipofuscinosis type 8 belongs to a heterogenous group of vision and life-threatening neurodegenerative diseases, neuronal ceroid lipofuscinosis (NCL). Effective therapy is limited to a single drug for treatment of ceroid lipofuscinosis
Imai, Denise M +11 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Clinical, MRI, and Genetic Findings in Batten Disease
Pediatric Neurology Briefs, 1998 The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Clinical Parkinsonism & Related DisordersNeuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu +5 more
doaj +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source