Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Relationships within the aldehyde dehydrogenase extended family

(2010) John Perozich et al.   PROTEIN SCIENCE

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

(2009) Renata C. Gallagher et al.   ANNALS OF NEUROLOGY

Pyridoxine-dependent Epilepsy: Normal Outcome in a Patient with Late Diagnosis after Prolonged Status Epilepticus Causing Cortical Blindness

(2009) G. Kluger et al.   NEUROPEDIATRICS

Two novelALDH7A1(antiquitin) splicing mutations associated with pyridoxine-dependent seizures

(2008) Pasquale Striano et al.   EPILEPSIA

Prevalence ofALDH7A1mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

(2008) Craig L. Bennett et al.   EPILEPSIA

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

(2008) Gregory J. Basura et al.   EUROPEAN JOURNAL OF PEDIATRICS

The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity

(2008) Wai-Kwan Tang et al.   FEBS LETTERS

Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case with Confirmed Biochemical and Molecular Pathology

(2008) Magdalena Kaczorowska et al.   JOURNAL OF CHILD NEUROLOGY

Pyridoxal 5′-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients

(2008) Aida Ormazabal et al.   MOLECULAR GENETICS AND METABOLISM