Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

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作者： Irene,Toldo ^[1] ; Claudia Maria,Bonardi ^[2] ; Elisa,Bettella ^[3] ; Roberta,Polli ^[4] ; Giacomo,Talenti ^[5] ; Alberto,Burlina ^[6] ; Stefano,Sartori ^[7] ; Alessandra,Murgia ^[8]

作者单位： Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: irene.toldo@unipd.it. ^[1] Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: claudiamaria.bonardi@gmail.com. ^[2] Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: elisa.bettella@unipd.it. ^[3] Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: roberta.polli@unipd.it. ^[4] Department of Neurosciences, University Hospital of Padua, Italy. Electronic address: giacomo_talenti@fastwebnet.it. ^[5] Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: alberto.burlina@unipd.it. ^[6] Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: stefano.sartori@unipd.it. ^[7] Department of Neurosciences, University Hospital of Padua, Italy. Electronic address: alessandra.murgia@unipd.it. ^[8]

关键词 ALDH7A1 Brain malformation Neonatal epileptic encephalopathy Neonatal seizures Pyridoxine-dependent epilepsy Vitamin B6