Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S.
van Karnebeek CD, et al.
Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11.
Pediatr Neurol. 2016.
PMID: 26995068
Review.
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. ...Beside neonatal refractory epileptic encephalopathy, numerous neurological manifestations and metaboli …
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin ( …