Results 51 to 60 of about 3,050,482 (146)

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, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Tuschl, Karin, Craigen, William J., De Lonlay, Pascale, Clayton, Peter T., Hemingway, Cheryl, Feillet, François, Marlow, Neil, Mills, Philippa B., Mills, Kevin A., Baxter, Peter, Pike, Mike G., Footitt, Emma J., Aylett, Sarah, Struys, Eduard A., Dulac, Olivier, Schmitt, Bernhard, Varadkar, Sophia, Rennie, Janet, Christensen, Ernst, Hughes, M. Imelda, Nabbout, Rima, Jakobs, Cornelis, Zuberi, Sameer M.   +22 more
core  

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy [PDF]

, 2022
BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment.
Buhas, D., Hartmann, H., Boyer, M., Lunsing, R.J., Tseng, L.A., Coughlin, C.R., Aziz, V.G., Grønborg, S., Footitt, E.J., Abdenur, J.E., Janssen, M.C.H., Longo, N., Wijburg, F.A., Andrews, A., MacKenzie, A.E., Gospe, S.M., Jr., Bok, L.A, Karnebeek, C.D. van   +17 more
core   +1 more source

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source

Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

, 2012
α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
Nota, B., Bakkali, A., Tabarki, B., Al Shahwan, S., Struijs, E.A., Salomons, G.S.   +5 more
core   +1 more source

Pan‐Cancer Analysis of the Immunomodulatory Roles and Prognostic Value of PDXP and Experimental Verification in SKCM

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Multiple public databases, including TCGA, GEO, and TARGET, were utilized to comprehensively analyze pyridoxal phosphatase (PDXP) expression profiles across 34 cancer types. We further explored the associations of PDXP expression with clinicopathological features, tumor immune microenvironment, genomic heterogeneity, functional signaling ...
Yingjian Hu, Xinzhu Zeng, Wei Cao, Jianhao Jiao, Yuan Zhao, Jun Wang   +5 more
wiley   +1 more source

Novel mutations in pyridoxine-dependent epilepsy.

, 2011
International audiencePURPOSE: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs.
Struys, Eduard, Salomons, Gajja, S., Hamelin, Sophie, Millet, Arnaud, Cneude, Fabrice, Jakobs, Cornelis, Debillon, Thierry, Corne, Christelle, A. Millet, C. Corne, Salomons, Gajja,, T. Debillon, S. Hamelin, F. Cneude, G.S. Salomons, C. Jakobs, E. Struys   +16 more
core   +1 more source