Results 31 to 40 of about 423 (120)

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   +5 more sources

Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the ILAE Task Force on Neonatal Seizures

Epilepsia, Volume 64, Issue 10, Page 2550-2570, October 2023., 2023
Abstract Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence‐based recommendations about antiseizure medication (ASM) management in neonates in accordance with ILAE standards.
Ronit M. Pressler, Nicholas S. Abend, Stéphan Auvin, Geraldine Boylan, Francesco Brigo, Maria Roberta Cilio, Linda S. De Vries, Maurizio Elia, Alberto Espeche, Cecil D. Hahn, Terrie Inder, Nathalie Jette, Angelina Kakooza‐Mwesige, Silke Mader, Eli M. Mizrahi, Solomon L. Moshé, Lakshmi Nagarajan, Iris Noyman, Magda L. Nunes, Pauline Samia, Eilon Shany, Renée A. Shellhaas, Ann Subota, Chahnez Charfi Triki, Tammy Tsuchida, Kollencheri Puthenveettil Vinayan, Jo M. Wilmshurst, Elissa G. Yozawitz, Hans Hartmann   +28 more
wiley   +1 more source

On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023
Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley   +1 more source

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

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

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., Mills, P.B., Marlow, N, Baxter, P, Footitt, E.J., Hughes, M Imelda, Aylett, S, De Lonlay, P., Rennie, Janet, Mills, K.A., Sameer M. Zuberi, Mills, K A, Struys, Eduard A, Lonlay, P. de, 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, Zuberi, S.M., Neil Marlow, Peter T. Clayton, M. Imelda Hughes, Jakobs, Cornelis, Pike, M.G., Tuschl, K., Hughes, M.I., Schmitt, B., Baxter, P., Clayton, P T, Sophia Varadkar, Struijs, E.A., Craigen, W J, Footitt, Emma J, Feillet, F., Cheryl Hemingway, Hughes, M I, Craigen, W.J., 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., Clayton, P.T., Jakobs, C., Hemingway, C, Cornelis Jakobs, Craigen, W. J.   +101 more
core   +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

The aetiologies of epilepsy

Epileptic Disorders, Volume 23, Issue 1, Page 1-16, February 2021., 2021
Abstract The identification of the aetiology of a patient's epilepsy is instrumental in the diagnosis, prognostic counselling and management of the epilepsies. Indeed, the aetiology can be important for determining the recurrence risk of single seizures and so for making a diagnosis of epilepsy.
Simona Balestrini, Alexis Arzimanoglou, Ingmar Blümcke, Ingrid E. Scheffer, Samuel Wiebe, Johan Zelano, Matthew C. Walker   +6 more
wiley   +1 more source