Results 81 to 90 of about 1,906 (168)

A Nonketotic Hyperglycinemia Mouse Shows Wide‐Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One‐Carbon Charging, and Serine Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments.
Michael A. Swanson, Hua Jiang, Lakshmi Divya Kolora, Rachel Molino, Richard Reisdorph, Cole R. Michel, Katrina A. Doenges, Kit‐Yi Leung, Xiangping Lin, Frank Wong, Samual Lancaster, Basil Michael, Michael Snyder, Daniella H. Hock, David A. Stroud, Tim Wood, Robert Binard, Laura Anderson‐Lehman, Uwe Christians, Erland Arning, Marisa W. Friederich, Roxanne A. Van Hove, Kenneth N. MacLean, Nicholas D. E. Greene, Johan L. K. Van Hove   +24 more
wiley   +1 more source

Nutritional Interventions for Enhancing Sleep Quality: The Role of Diet and Key Nutrients in Regulating Sleep Patterns and Disorders

Food Science &Nutrition, Volume 13, Issue 12, December 2025.
This review highlights the growing evidence linking diet and key nutrients with sleep quality and circadian regulation. Nutrients such as tryptophan, magnesium, and omega‐3 fatty acids, along with dietary patterns like the Mediterranean and plant‐based diets, demonstrate positive associations with sleep duration and efficiency.
Rony Abou‐Khalil
wiley   +1 more source

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

JIMD Reports, 2020
Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

Epilepsia, Volume 66, Issue 12, Page 5014-5032, December 2025.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol   +18 more
wiley   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2005
Contains fulltext : 49173.pdf (Publisher’s version ) (Open Access)
Willemsen, M.A.A.P., Mavinkurve-Groothuis, A.M.C., Wevers, R.A., Rotteveel, J.J., Jakobs, C.   +4 more
openaire   +2 more sources

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán‐Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

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