Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

Epilepsia
Pasquale StrianoCornelis Jakobs

Abstract

Pyridoxine-dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine. We report two unrelated patients affected with PDS as a result of alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency caused by pathogenic ALDH7A1/antiquitin mutations. Two of the three reported mutations are novel and result in erroneous splicing, as showed by messenger RNA (mRNA) studies. So far, the vast majority of the patients clinically diagnosed as PDS show alpha-AASA dehydrogenase deficiency, caused by mutations in the ALDH7A1 gene. However, despite the availability of reliable biomarkers, early consideration of a pyridoxine trial is still the most important issue in a child with therapy-resistant seizures.

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Citations

Sep 4, 2010·Journal of Inherited Metabolic Disease·Gunter ScharerJohan L K Van Hove
Jun 18, 2010·Brain : a Journal of Neurology·Philippa B MillsPeter T Clayton
Jun 27, 2009·Neuropsychiatric Disease and Treatment·Chang-Yong Tsao
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Jul 8, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Nune S YeghiazaryanMassimo Mastrangelo
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Jul 19, 2012·Developmental Medicine and Child Neurology·Levinus A BokMichèl A Willemsen
Nov 4, 2009·Journal of Cellular Biochemistry·Judy Wei-Yan WongWing-Ping Fong
Aug 28, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·R RiikonenE Gaily
May 23, 2014·European Journal of Human Genetics : EJHG·Erika Della MinaOrsetta Zuffardi
Apr 2, 2019·Brain : a Journal of Neurology·Sebastian GuelfiMar Matarin
Jul 26, 2019·Expert Review of Neurotherapeutics·Mario Mastrangelo, Serena Cesario
Jan 26, 2020·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Pasquale Striano, Berge A Minassian
Jul 21, 2016·Metabolic Brain Disease·Florent MarguetSoumeya Bekri

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