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
Irene ToldoAlessandra Murgia

Abstract

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. The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy. We conducted a literature review on the Internet database Pubmed (up to November 2017) searching for ALDH7A1 mutations associated with brain malformations and brain MRI findings. We present the case of two siblings, children of related parents. The proband presented neonatal focal seizures not responding to conventional antiepileptic drugs. Electroencephalography showed a suppression burst pattern and several multifocal ictal patterns, responsive to pyridoxine. Brain MRI was normal. Molecular analysis by targeted next-generation sequencing panel for epileptic encephalopathy disclosed a homozygous missense mutation of ALDH7A1. The same mutation was then found in a stored sample of DNA from peripheral blood of an older sister dead 3 years earlier. This girl presented a co...Continue Reading

Citations

Jan 24, 2019·Journal of Inherited Metabolic Disease·Matthew P WilsonPeter T Clayton
Jul 26, 2019·Expert Review of Neurotherapeutics·Mario Mastrangelo, Serena Cesario
Nov 19, 2019·Developmental Medicine and Child Neurology·Xianru JiaoZhixian Yang
Jun 22, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·M StrijkerR J Lunsing
Sep 28, 2021·Journal of Clinical Laboratory Analysis·Qin SheWeihe Tan

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