The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9187-2
Reference36 articles.
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2. Baxter P (2001) Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 43:416–420
3. Been JV, Bok LA, Andriessen P, Renier WO (2005) Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child 90:1293–1296
4. Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM Jr (2005) Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics 6:143–149
5. 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
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