Article
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2018
Toldo Irene, Bonardi Claudia Maria, Bettella Elisa, Polli Roberta, Talenti Giacomo, Burlina Alberto, Sartori Stefano, Murgia Alessandra
Abstract excerpt
BACKGROUND: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder. AIM: The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of...
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