Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1
نویسندگان
چکیده
منابع مشابه
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therap...
متن کاملGenotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnos...
متن کاملClinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by treatment and examination of the ALDH7A1 mutations. The seizures of the 3 patients were all resis...
متن کاملIntragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1. METHODS We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene. We performed array comparative genomic hybridization in 6 patients with clinical ...
متن کاملMutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
To The ediTor Recently, Lin and colleagues have reported a case of pyridoxine-dependent seizures in this journal 1. The diagnosis was based upon the clinical criteria as formulated by Baxter 2. In discussing the case the authors state that the underlying pathophysiology of the disorder is unknown and that no biochemical aids are available in establishing the diagnosis. Indeed, for 50 years pyri...
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ژورنال
عنوان ژورنال: Seizure
سال: 2018
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2018.03.010