Results 31 to 40 of about 426 (124)

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

Molecular Genetics &Genomic Medicine, Volume 10, Issue 10, October 2022., 2022
We introduce another four cases with new variants, after combined all reported B6‐responsive cases, we found refractory epileptic encephalopathy patients may be responsive to pyridoxine with the variants located in ion transport domain of KCNQ2. Abstract Background Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early ...
Jun Chen, Qiuji Tao, Lijuan Fan, Yajun Shen, Jinfeng Liu, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan   +8 more
wiley   +1 more source

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

, 2010
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-{alpha}-aminoadipic semialdehyde/L-{Delta}
Hemingway, Cheryl, François Feillet, Pascale De Lonlay, Sarah Aylett, Struys, E A, Dulac, Olivier, Schmitt, Bernhard, Bernhard Schmitt, Jakobs, C, Rennie, J, Marlow, N., Hughes, M. I., De Lonlay, Pascale, Pike, M G, Mills, P B, Dulac, O, Feillet, François, Zuberi, S. M., Eduard A. Struys, Mills, Kevin A, William J. Craigen, Christensen, Ernst, Schmitt, B, De Lonlay, P, Footitt, E. J., Janet Rennie, Christensen, E., Emma J. Footitt, Tuschl, Karin, Struys, E. A., Hemingway, C., Marlow, N, Baxter, P, Hughes, M Imelda, Aylett, S, De Lonlay, P., Rennie, Janet, Sameer M. Zuberi, Mills, K A, Struys, Eduard A, Tuschl, K, Varadkar, S, Rima Nabbout, Karin Tuschl, Aylett, Sarah, Clayton, P. T., Varadkar, Sophia, Philippa B. Mills, Footitt, E J, Zuberi, S M, Ernst Christensen, Aylett, S., Peter Baxter, Clayton, Peter T, Neil Marlow, Peter T. Clayton, M. Imelda Hughes, Jakobs, Cornelis, Tuschl, K., Schmitt, B., Baxter, P., Clayton, P T, Sophia Varadkar, Craigen, W J, Footitt, Emma J, Feillet, F., Cheryl Hemingway, Hughes, M I, Dulac, O., Nabbout, Rima, Pike, M. G., Mike G. Pike, Feillet, F, Pike, Mike G, Rennie, J., Mills, P. B., Christensen, E, Marlow, Neil, Kevin A. Mills, Olivier Dulac, Zuberi, Sameer M, Craigen, William J, Nabbout, R, Mills, K. A., Varadkar, S., Baxter, Peter, Mills, Philippa B, Nabbout, R., Jakobs, C., Hemingway, C, Cornelis Jakobs, Craigen, W. J.   +91 more
core   +1 more source

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1349-1397, June 2022., 2022
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and ...
Sameer M. Zuberi, Elaine Wirrell, Elissa Yozawitz, Jo M. Wilmshurst, Nicola Specchio, Kate Riney, Ronit Pressler, Stephane Auvin, Pauline Samia, Edouard Hirsch, Santiago Galicchio, Chahnez Triki, O. Carter Snead, Samuel Wiebe, J. Helen Cross, Paolo Tinuper, Ingrid E. Scheffer, Emilio Perucca, Solomon L. Moshé, Rima Nabbout   +19 more
wiley   +1 more source

An Atypical Presentation of Pyridoxine‐Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022
Pyridoxine dependent‐developmental and epileptic encephalopathy (PD‐DEE) or pyridoxine‐dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. It classically presents as intractable infantile‐onset seizures unresponsive to multiple antiepileptic drugs (AEDs) but with a profound response to ...
Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon, Muhammad G. Kibriya   +5 more
wiley   +1 more source

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

JIMD Reports, Volume 59, Issue 1, Page 32-41, May 2021., 2021
Abstract Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to vitamin B6 treatment.
Maitou Pal, Baiba Lace, Yvan Labrie, Nathalie Laflamme, Nadie Rioux, Samarth Thonta Setty, Marc‐Andre Dugas, Louise Gosselin, Arnaud Droit, Nicolas Chrestian, Serge Rivest   +10 more
wiley   +1 more source

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

JIMD Reports, Volume 58, Issue 1, Page 3-11, March 2021., 2021
Abstract Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP have been shown to cause a form of early onset ...
Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue   +5 more
wiley   +1 more source

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures [PDF]

Epilepsia, 2009
SummaryPyridoxine‐dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine.
STRIANO, PASQUALE, S. Battaglia, L. Giordano, G. Capovilla, F. Beccaria, E. A. Struys, G. S. Salomons, C. Jakobs   +7 more
openaire   +4 more sources

Expression, characterization and mutational studies of human antiquitin. [PDF]

, 2007
Chan, King Lun Michel.Thesis (M.Phil.)--Chinese University of Hong Kong, 2007.Includes bibliographical references (leaves 111-121).Abstracts in English and Chinese.THESIS ASSESSMENT COMMITTEE --- p.iACKNOWLEDGEMENTS --- p.ii摘要 --- p.ivABSTRACT --- p ...

core  

Drought Risk in Mango and Avocado Orchards: Insights Into Plant Water Relations and Irrigation‐Related Agronomic Solutions

Irrigation and Drainage, Volume 75, Issue 4, Page 1738-1763, Otober 2026.
ABSTRACT Climate change is making water availability more uncertain, with growing consequences for the productivity and long‐term sustainability of tropical and subtropical fruit orchards. Mangifera indica L. and Persea americana Mill. both require large amounts of water to sustain growth and productivity.
Eleonora Cataldo
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source