Results 71 to 80 of about 3,050,532 (174)

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

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination [PDF]

, 2015
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.
Mills, Philippa B, Zemel, Matthew, Cook, Joseph, Gospe, Sidney M, Mefford, Heather C, Geraghty, Eileen, Clayton, Peter T, Nordli, Douglas R, Paul, Karl, Plecko, Barbara, Mills PB, Paul K, Gospe SM, Geraghty E, Clayton PT, Zemel M, Cook J, Nordli DR, Mefford HC, Plecko B   +19 more
core   +1 more source

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +1 more source

Pyridoxine-dependent convulsions among children with refractory seizures: A 3-year follow-up study

Journal of Pediatric Neurosciences, 2016
Introduction: Epilepsy accounts for 1% of the global disease burden and about 8–10 million epilepsy patients live in India. About 30–40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries.
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara   +4 more
doaj   +1 more source

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Background:Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.Case report:In 21 and 23 year-old sisters ...
Alfadhel, M., Sirrs, S., Waters, P.J., Szeitz, A., Struijs, E.A., Coulter-Mackie, M., Stockler-Ipsiroglu, S.   +6 more
openaire   +3 more sources

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, Volume 11, Issue 5, Page 1478-1489, October 2026.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, Volume 11, Issue 5, Page 1395-1412, October 2026.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source