Results 21 to 30 of about 1,896 (150)

Neonatal-onset developmental and epileptic encephalopathy: High genetic yield and long-term outcomes in a multicenter southern European cohort. [PDF]

Epilepsia Open
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).
Sala-Coromina J, Marcé-Grau A, D'Onofrio G, Riva A, Pons R, Kollia E E, Raspall-Chaure M, López-Laso E, López-Pisón J, Verdura E, Schlüter A, Casellas-Vidal D, Camós-Carreras M, Iacomino M, Spalice A, Parisi P, de la Ossa-Vela AM, Vicente-Rasoamalala M, Pujol A, Salpietro V, Striano P, Macaya A.   +21 more
europepmc   +2 more sources

Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures [PDF]

Arquivos de Neuro-Psiquiatria, 2008
in this gene have been shown to be present in the majority of patients with a clinical diagnosis of pyridoxinedependent seizures 3-6 . These mutations cause a deficien cy in α-aminoadipic semialdehyde (α-AASA) dehydrogenase, indirectly leading to a secondary deficiency in pyri doxal-5-phosphate (P5P), which causes seizures. Administration of pyridoxine
Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs   +4 more
doaj   +7 more sources

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency. [PDF]

Clin Case Rep
ABSTRACTPyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11‐day‐old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated ...
Saeedi M, Mirnia K, Sedighzadeh S, Sangsari R.   +3 more
europepmc   +4 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations [PDF]

Oxford Medical Case Reports, 2020
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Dowa, Yuri, Shiihara, Takashi, Akiyama, Tomoyuki, Hasegawa, Kosei, Inoue, Fumitaka, Watanabe, Mio   +5 more
openaire   +2 more sources

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

Stem Cell Research, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

PLoS ONE, 2021
BackgroundPyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism.
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Andrews   +7 more
doaj   +1 more source

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

PLoS ONE, 2017
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in ...
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews   +8 more
doaj   +1 more source

The impact of ALDH7A1 variants in oral cancer development and prognosis

Aging, 2022
The gene encoding aldehyde dehydrogenase 7 family member A1 (ALDH7A1) has been associated with the development and prognosis in multiple cancers; however, the role of ALDH7A1 polymorphisms in oral cancer remains unknown. For this purpose, the influences of ALDH7A1 rs13182402 and rs12659017 on oral cancer development and prognosis were analyzed.
Lu, Hsueh-Ju, Chuang, Chun-Yi, Chen, Mu-Kuan, Su, Chun-Wen, Yang, Wei-En, Yeh, Chia-Ming, Lai, Kuan-Ming, Tang, Chih-Hsin, Lin, Chiao-Wen, Yang, Shun-Fa   +9 more
openaire   +2 more sources

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Annals of the Child Neurology Society, 2023
Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin  II, Sidney M. Gospe  Jr.   +1 more
doaj   +1 more source

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

Brain, 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-Delta1-piperideine 6-carboxylate.
Mills, Philippa B, Footitt, Emma J, Mills, Kevin A, Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J, Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G, Hughes, M Imelda, Struys, Eduard A, Jakobs, Cornelis, Zuberi, Sameer M, Clayton, Peter T   +22 more
openaire   +4 more sources