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

CONCLUSIONS: ALDH7A1 mutations have been associated to different brain abnormalities, documented by MRI only in few cases. The study cases expand the clinical spectrum of ALDH7A1 associated conditions, suggesting to look for ALDH7A1 mutations not only in classical phenotypes but also in patients with brain malformations, mainly if there is a response to a pyridoxine trial.
PMID: 30005813 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - July 3, 2018 Category: Neurology Authors: Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A Tags: Eur J Paediatr Neurol Source Type: research