Natural history of pyridoxine-dependent epilepsy: Tools for prognostication

Developmental Medicine and Child Neurology

Volumn 54, Issue 9, 2012, Pages 781-782

  Gospe, Sidney M ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLYSINE; ANTICONVULSIVE AGENT; FOLINIC ACID; LYSINE; PYRIDOXINE;

ALDH7A1 GENE; COGNITION; DEVELOPMENTAL DISORDER; DIET RESTRICTION; ELECTROENCEPHALOGRAM; EPILEPSY; GENE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; NEUROPSYCHOLOGICAL TEST; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGNOSIS; PYRIDOXINE DEPENDENT EPILEPSY; SEIZURE;

EPILEPSY; FEMALE; HUMANS; MALE; PREGNANCY;

EID: 84865187394     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04354.x     Document Type: Note

References (7)

1. Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954; 13: 140-5.
2. Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006; 12: 307-9.
3. Stockler S, Plecko B, Gospe SM Jr, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011; 104: 48-60.
4. Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr. 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 2009; 168: 697-704.
5. Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133: 2148-59.
6. Scharer G, Brocker C, Vasiliou V, et al. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis 2010; 33: 571-81.
7. Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol DOI: 10.1111/j.1469-8749.2012.04347.x. (Published online).