Results 61 to 70 of about 1,809 (153)

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

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses are a newly-recognized group of lysosomal storage disorders in which neurodegeneration predominates. The pathophysiological basis for this is unknown.
Tuhin Virmani, Praveena Gupta, Xinran Liu, Ege T. Kavalali, Sandra L. Hofmann   +4 more
doaj   +1 more source

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Acta Epileptologica, 2020
Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical features and
Jing Zhang, Ying Yang, Xueyang Niu, Jiaoyang Chen, Wei Sun, Changhong Ding, Lifang Dai, Liping Zhang, Qi Zeng, Yi Chen, Xiaojuan Tian, Xiaoling Yang, Taoyun Ji, Zhixian Yang, Yanling Yang, Yuwu Jiang, Yuehua Zhang   +16 more
doaj   +1 more source

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

eLife, 2019
The autosomal dominant neuronal ceroid lipofuscinoses (NCL) CLN4 is caused by mutations in the synaptic vesicle (SV) protein CSPα. We developed animal models of CLN4 by expressing CLN4 mutant human CSPα (hCSPα) in Drosophila neurons. Similar to patients,
Elliot Imler, Jin Sang Pyon, Selina Kindelay, Meaghan Torvund, Yong-quan Zhang, Sreeganga S Chandra, Konrad E Zinsmaier   +6 more
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Neurobiology of Disease, 1999
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum   +13 more
doaj   +1 more source

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013
The neuronal ceroid lipofuscinoses (NCLs) are a group of rare genetic diseases characterised clinically by the progressive deterioration of mental, motor and visual functions and histopathologically by the intracellular accumulation of autofluorescent lipopigment - ceroid - in affected tissues.
Kmoch, Stanislav, Stránecký, Viktor, Emes, Richard D., Mitchison, Hannah M.   +3 more
openaire   +2 more sources

Palmitoyl‐Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing‐Related Human Neuronal Lipofuscin

Neuropathology and Applied Neurobiology, Volume 51, Issue 5, October 2025.
ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Max Anstötz, Sarah Tschirner, Caroline May, Steffen Kösters, Christine Martin, Svenja Caspers, Eleonora Aronica, Hans Jürgen Bidmon, Katrin Marcus, Carsten Korth   +9 more
wiley   +1 more source

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

BMC Cell Biology, 2007
Background Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 ...
Jauhiainen Matti, Saarela Jani, Kopra Outi, Salonen Tarja, von Schantz Carina, Lyly Annina, Kyttälä Aija, Jalanko Anu   +7 more
doaj   +1 more source