Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-020-01467-3.pdf
Reference24 articles.
1. Al Teneiji A, Bruun TUJ, Cordeiro D et al (2017) Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. Metab Brain Dis 32:443–451
2. Basura GJ, Hagland SP, Wiltse AM et al (2009) Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr 168:697–704
3. Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr (2009) Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia 50:1167–1175
4. Bok LA, Halbertsma FJ, Houterma S et al (2012) Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol 54:849–854
5. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D et al (1996) Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 38(11):998–1006
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