The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 571-581

  Scharer, Gunter ^a   Brocker, Chad ^b   Vasiliou, Vasilis ^b   Creadon Swindell, Geralyn ^a   Gallagher, Renata C ^a   Spector, Elaine ^a   Van Hove, Johan L K ^a  

^a Children's Hospital Colorado   (United States)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLYSINE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; CARBOXYLIC ACID DERIVATIVE; CORTICOTROPIN; FOLINIC ACID; NICOTINAMIDE ADENINE DINUCLEOTIDE; PARALDEHYDE; PHENOBARBITAL; PHENYTOIN; PIPERIDEINE 6 CARBOXYLIC ACID; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BINDING SITE; CATALYSIS; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE CONTROL; DRUG WITHDRAWAL; ENZYME DEFICIENCY; ENZYME SUBSTRATE COMPLEX; EPILEPSY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT IDENTIFICATION; PHENOTYPE; PROTEIN MULTIMERIZATION; SEIZURE;

ADOLESCENT; ADULT; ALDEHYDE DEHYDROGENASE; ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; COLORADO; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PYRIDOXINE; STRUCTURE-ACTIVITY RELATIONSHIP; TREATMENT OUTCOME; YOUNG ADULT;

EID: 77957552434     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9187-2     Document Type: Article

References (36)

1. GJ Basura SP Hagland AM Wiltse SM Gospe Jr 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 10.1007/s00431-008-0823-x 18762976
2. P Baxter 2001 Pyridoxine-dependent and pyridoxine-responsive seizures Dev Med Child Neurol 43 416 420 1:STN:280:DC%2BD3Mzks12huw%3D%3D 10.1017/S0012162201000779 11409832
3. JV Been LA Bok P Andriessen WO Renier 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands Arch Dis Child 90 1293 1296 1:STN:280:DC%2BD2MnhvFGmsw%3D%3D 10.1136/adc.2005.075069 16159904 (Pubitemid 41736323)
4. CL Bennett HM Huynh PF Chance IA Glass SM Gospe Jr 2005 Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures Neurogenetics 6 143 149 1:STN:280:DC%2BD28%2FosVWksQ%3D%3D 10.1007/s10048-005- 0221-8 16075246 (Pubitemid 41396990)
5. CL Bennett Y Chen S Hahn IA Glass SM Gospe Jr 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients Epilepsia 50 1167 1175 1:CAS:528:DC%2BD1MXms1Skt7k%3D 10.1111/j.1528-1167.2008. 01816.x 19128417
6. LA Bok JV Been EA Struys C Jakobs EAM Rijper MA Willemsen 2010 Antenatal treatment in two Dutch families with pyridoxine-dependent seizures Eur J Pediatr 169 297 303 10.1007/s00431-009-1020-2 19588165
7. Brocker C, Lassen N, Estey T, et al (2010) Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. J Biol Chem. doi: 10.1074/jbc.M109.077925
8. JT den Dunnen SE Antonarakis 2000 Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Human Mutat 15 7 12 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N (Pubitemid 30036162)
9. RC Gallagher JL Van Hove G Scharer, et al. 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy Ann Neurol 65 550 556 1:CAS:528:DC%2BD1MXnvFahsLY%3D 10.1002/ana.21568 19142996
10. SM Gospe Jr 1998 Current perspectives on pyridoxine-dependent seizures J Pediatr 132 919 923 10.1016/S0022-3476(98)70384-1 9627579 (Pubitemid 28280399)
11. SM Gospe Jr 2002 Pyridoxine-dependent seizures: findings from recent studies pose new questions Pediatr Neurol 26 181 185 10.1016/S0887-8994(01) 00407-6 11955923 (Pubitemid 34296529)
12. C-A Haenggli E Girardin L Paunier 1991 Pyridoxin-dependent seizures, clinical and therapeutic aspects Eur J Pediatr 150 452 455 10.1007/BF01958419
13. GF Hoffmann B Schmitt M Windfuhr, et al. 2007 Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy J Inherit Metab Dis 30 96 99 1:STN:280:DC%2BD2s%2FjsFahtQ%3D%3D 10.1007/s10545-006-0508-4 17216302 (Pubitemid 46140231)
14. AD Hunt J Stokes Jr WW McCrory HH Stroud 1954 Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine Pediatr 13 140 145 1:CAS:528:DyaG2cXks1yksQ%3D%3D
15. N Kabakus M Aydin SA Ugur M Durukan A Tolun 2008 Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus Pediatr Int 50 703 705 10.1111/j.1442-200X.2008.02712.x 19261126
16. M Kaczorowska T Kmiec C Jakobs, et al. 2008 Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first Polish case with confirmed biochemical and molecular pathology J Child Neurol 23 1455 1459 10.1177/0883073808318543 18854520
17. J Kanno S Kure A Narisawa, et al. 2007 Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis Mol Genet Metab 91 384 389 1:CAS:528:DC%2BD2sXnslWltrk%3D 10.1016/j.ymgme.2007.02.010 17433748 (Pubitemid 47043500)
18. G Kluger R Blank E Paschke, et al. 2008 Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness Neuropediatr 39 276 279 1:STN:280:DC%2BD1M3hs1KksA%3D%3D 10.1055/s-0029-1202833
19. J Kyte RF Doolittle 1982 A simple method for displaying the hydropathic character of a protein J Mol Biol 157 105 132 1:CAS:528:DyaL38Xks1yjtro%3D 10.1016/0022-2836(82)90515-0 7108955
20. IT Lott T Coulombe RV Di Paolo EP Richardson Jr HL Levy 1978 Vitamin B6-dependent seizures : pathology and chemical findings in brain Neurology 28 47 54 1:CAS:528:DyaE1cXhtVaqt7c%3D 563538
21. Millet A, Salomons GS, Cneude F et al (2010) Novel mutations in pyridoxine-dependent epilepsy. Eur J Paediatr Neurol. doi: 10.1016/j.ejpn.2010. 03.011
22. PB Mills RA Surtees MP Champion, et al. 2005 Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′phosphate oxidase Hum Mol Genet 14 1077 1086 1:CAS:528: DC%2BD2MXjtlensrc%3D 10.1093/hmg/ddi120 15772097 (Pubitemid 40575883)
23. PB Mills E Struys C Jakobs, et al. 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures Nat Med 12 307 309 1:CAS:528:DC%2BD28XitVGnt7g%3D 10.1038/nm1366 16491085 (Pubitemid 43355078)
24. TC Murphy V Amarnath KM Gibson MJ Picklo Sr 2003 Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A) J Neurochem 86 298 305 1:CAS:528:DC%2BD3sXlslGhsbs%3D 10.1046/j.1471-4159.2003.01839.x 12871571 (Pubitemid 36849602)
25. J Nicolai VHJM van Kranen-Mastenbroek RA Wevers WAPT Hurkx JHS Vles 2006 Folinic acid-responsive seizures initially responsive to pyridoxine Pediatr Neurol 34 164 167 10.1016/j.pediatrneurol.2005.08.019 16458834 (Pubitemid 43187993)
26. 6 dependent seizures Can J Neurol Sci 36 Suppl 2 S73 S77 19760909
27. B Plecko C Hikel G-C Korenke, et al. 2005 Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy Neuropediatr 36 200 205 1:CAS:528:DC%2BD2MXmt1eltr0%3D 10.1055/s-2005-865727 (Pubitemid 41117117)
28. B Plecko K Paul E Paschke, et al. 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene Hum Mutat 28 19 26 1:CAS:528: DC%2BD2sXhtVWhsbs%3D 10.1002/humu.20433 17068770 (Pubitemid 46036210)
29. R RamachandranNair M Parameswaran 2005 Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: a hospital based prospective study Eur J Paediatr Neurol 9 409 413 10.1016/j.ejpn.2005.08.005 16257246 (Pubitemid 43019596)
30. PM Rankin S Harrison WK Chong S Boyd SE Aylett 2007 Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime Dev Med Child Neurol 49 300 305 10.1111/j.1469-8749.2007. 00300.x 17376142 (Pubitemid 46477256)
31. MG Reese FH Eeckman D Kulp D Haussler 1997 Improved splice site detection in Genie J Comput Biol 4 311 323 1:CAS:528:DyaK2sXls1Whtbc%3D 10.1089/cmb.1997.4.311 9278062
32. J Rodriguez-Zavala H Weiner 2001 Role of the C-terminal tail on the quaternary structure of aldehyde dehydrogenases Chem Biol Interact 132 151 160 10.1016/S0009-2797(00)00230-1 (Pubitemid 32295810)
33. J Rodriguez-Zavala H Weiner 2002 Structural aspects of aldehyde dehydrogenase that influence dimer-tetramer formation Biochemistry 41 8229 8237 1:CAS:528:DC%2BD38Xkt1aisb0%3D 10.1021/bi012081x 12081471 (Pubitemid 34705476)
34. GS Salomons LA Bok EA Struys, et al. 2007 An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1) Ann Neurol 62 414 418 1:CAS:528:DC%2BD2sXhsVSjurvO 10.1002/ana.21206 17721876 (Pubitemid 350105955)
35. Schmitt B, Baumgartner M, Mills PB, et al. (2010) Seizure and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol. doi: 10.1111/j.1469-8749.2010.03660.x
36. P Striano S Battaglia L Giordano, et al. 2009 Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures Epilepsia 50 933 936 1:CAS:528:DC%2BD1MXksFOqtb0%3D 10.1111/j.1528-1167.2008. 01741.x 18717709