Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

European Journal of Paediatric Neurology

Volumn 15, Issue 6, 2011, Pages 547-550

  Yeghiazaryan, Nune S ^a,b   Striano, Pasquale ^a   Spaccini, Luigina ^d   Pezzella, Marianna ^a   Cassandrini, Denise ^c   Zara, Federico ^a   Mastrangelo, Massimo ^d  

^a UNIVERSITY OF GENOA   (Italy)

^b Armenian Republican Epilepsy Center Erebouni   (Armenia)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

ALDH7A1; Neonatal seizures; Pyridoxine dependent seizures; Vitamin B6

Indexed keywords

ALDEHYDE; AMINOADIPIC ACID; ANTIQUITIN; DIAZEPAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LONG TERM CARE; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT SEIZURE; RARE DISEASE; SEIZURE; SIBLING; TREATMENT OUTCOME;

ADOLESCENT; ALDEHYDE DEHYDROGENASE; CORPUS CALLOSUM; DIFFUSION MAGNETIC RESONANCE IMAGING; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; LONGITUDINAL STUDIES; MALE; MUTATION; PYRIDOXINE; SIBLINGS; VITAMIN B COMPLEX;

EID: 81855176241     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.05.011     Document Type: Article

References (10)

1. P. Baxter Pyridoxine-dependent and pyridoxine-responsive seizures Dev Med Child Neurol 43 2001 416 420 (Pubitemid 32674229)
2. S.M. Gospe Jr. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment Curr Opin Neurol 19 2006 148 153
3. P.B. Mills, E. Struys, C. Jakobs, B. Plecko, P. Baxter, and M. Baumgartner Mutations in antiquitin in individuals with pyridoxine-dependent seizures Nat Med 12 2006 307 309 (Pubitemid 43355078)
4. B. Plecko, K. Paul, E. Paschke, S. Stoeckler-Ipsiroglu, E. Struys, and C. Jakobs Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene Hum Mutat 28 2007 19 26 (Pubitemid 46036210)
5. G.S. Salomons, L.A. Bok, E.A. Struys, L.L. Pope, P.S. Darmin, and P.B. Mills An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1) Ann Neurol 62 4 2007 414 418 (Pubitemid 350105955)
6. P. Striano, S. Battaglia, L. Giordano, G. Capovilla, F. Beccaria, and E.A. Struys Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures Epilepsia 50 4 2009 933 936
7. C.L. Bennett, Y. Chen, S. Hahn, I.A. Glass, and S.M. Gospe Jr. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients Epilepsia 50 5 2009 1167 1175
8. P. Baxter, P. Griffiths, T. Kelly, and D. Gardner-Medwin Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient Dev Med Child Neurol 38 11 1996 998 1006 (Pubitemid 26370621)
9. P.M. Rankin, S. Harrison, W.K. Chong, S. Boyd, and S.E. Aylett Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime Dev Med Child Neurol 49 4 2007 300 305 (Pubitemid 46477256)
10. K. Baynes, S.T. Farias, and S.M. Gospe Jr. Pyridoxine-dependent seizures and cognition in adulthood Dev Med Child Neurol 45 11 2003 782 785 (Pubitemid 37304069)