Results 161 to 170 of about 3,724 (217)

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   +1 more source

Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. [PDF]

Sci Adv
Yan J, Wu J, Xu M, Wang M, Guo W.
europepmc   +1 more source

Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1. [PDF]

FEBS J, 2020
Laciak AR, Korasick DA, Wyatt JW, Gates KS, Tanner JJ.   +4 more
europepmc   +1 more source

Pyridoxine-Dependent Epilepsy

, 2019
openaire   +2 more sources

Early-Onset Polymorphic Seizures and Hydrocephalus: A Clue to an Underlying Pyridoxine-Dependent Epilepsy [PDF]

S. Ankul Singh, Aditya Kochar, Sujatha Manjunathan, Arushi Gahlot Saini   +3 more
openalex   +1 more source

Image 1_Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.png

Xixi Yu (9911322), Xin Zhang (35492), Shiyan Qiu (22179229), Li Yang (6520), Xin Li (51274), Dongyu Shi (22179232)   +5 more
openalex   +1 more source

Table 2_Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.xls

Xixi Yu (9911322), Xin Zhang (35492), Shiyan Qiu (22179229), Li Yang (6520), Xin Li (51274), Dongyu Shi (22179232)   +5 more
openalex   +1 more source

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. [PDF]

J Inherit Metab Dis, 2019
Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.   +16 more
europepmc   +1 more source

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   +1 more source

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

International Journal of Epilepsy
Surekha Dabla, Neeraj Kumar
openaire   +1 more source