Results 51 to 60 of about 1,906 (168)

Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. [PDF]

Sci Rep, 2019
Xue J, Wang J, Gong P, Wu M, Yang W, Jiang S, Wu Y, Jiang Y, Zhang Y, Yuzyuk T, Li H, Yang Z.   +11 more
europepmc   +3 more sources

Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2020
Laciak AR, Korasick DA, Gates KS, Tanner JJ.   +3 more
europepmc   +3 more sources

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

Epilepsy & Behavior Reports, 2022
Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of
Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata   +8 more
doaj   +1 more source

Drug-Resistant Epilepsy or Pyridoxine-Dependent Epilepsy: A Dilemma

International Journal of Epilepsy
Surekha Dabla, Neeraj Kumar
openalex   +2 more sources

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. [PDF]

Hum Mol Genet, 2020
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR.   +14 more
europepmc   +3 more sources

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

Frontiers in Genetics, 2022
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao, Pan Gong, Yue Niu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

Callosal alterations in pyridoxine‐dependent epilepsy [PDF]

Developmental Medicine & Child Neurology, 2014
AimWhile there have been isolated reports of callosal morphology differences in pyridoxine‐dependent epilepsy (PDE), a rare autosomal disorder caused by ALDH7A1 gene mutations, no study has systematically evaluated callosal features in a large sample of patients.
Friedman, S.D., Ishak, G.E., Poliachik, S.L., Poliakov, A.V., Otto, R.K., Shaw, D.W., Willemsen, M.A.A.P., Willemsen, M.A.A.P., Bok, L.A., Gospe, S.M., Jr.   +9 more
openaire   +3 more sources

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

Communications Biology, 2022
Combined metabolomics, NMR, and, IRIS identify biomarkers of hyperprolinemia type II (HPII) distinct from HPI and similar metabolic signatures as in patients with pyridoxine-dependent epilepsy.
Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje   +13 more
doaj   +1 more source

Pyridoxine-Dependent Epilepsy

, 2022
The aim of this thesis is to provide and discuss evidence that enables informed decision making on inclusion of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in newborn screening programs.PDE-ALDH7A1 is a neurometabolic disorder of lysine catabolism, characterized by (neonatal) seizures.
Saadet Mercimek-Andrews, Cecil D. Hahn
openaire   +4 more sources

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum [PDF]

Pediatric Neurology, 2016
Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6 ...
Clara D M, van Karnebeek, Sylvia A, Tiebout, Jikkemien, Niermeijer, Bwee Tien, Poll-The, Aisha, Ghani, Curtis R, Coughlin, Johan L K, Van Hove, Jost Wigand, Richter, Hans Juergen, Christen, Renata, Gallagher, Hans, Hartmann, Sylvia, Stockler-Ipsiroglu   +11 more
openaire   +4 more sources