These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 21733724)

  • 1. Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
    Yeghiazaryan NS; Striano P; Spaccini L; Pezzella M; Cassandrini D; Zara F; Mastrangelo M
    Eur J Paediatr Neurol; 2011 Nov; 15(6):547-50. PubMed ID: 21733724
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
    Striano P; Battaglia S; Giordano L; Capovilla G; Beccaria F; Struys EA; Salomons GS; Jakobs C
    Epilepsia; 2009 Apr; 50(4):933-6. PubMed ID: 18717709
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    Bennett CL; Chen Y; Hahn S; Glass IA; Gospe SM
    Epilepsia; 2009 May; 50(5):1167-75. PubMed ID: 19128417
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.
    Ville D; Ginguene C; Marignier S; des Portes V; de Bellescize J
    Eur J Paediatr Neurol; 2013 Nov; 17(6):676-80. PubMed ID: 23916709
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
    Bok LA; Maurits NM; Willemsen MA; Jakobs C; Teune LK; Poll-The BT; de Coo IF; Toet MC; Hagebeuk EE; Brouwer OF; van der Hoeven JH; Sival DA
    Epilepsia; 2010 Dec; 51(12):2406-11. PubMed ID: 20887371
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
    Plecko B; Paul K; Paschke E; Stoeckler-Ipsiroglu S; Struys E; Jakobs C; Hartmann H; Luecke T; di Capua M; Korenke C; Hikel C; Reutershahn E; Freilinger M; Baumeister F; Bosch F; Erwa W
    Hum Mutat; 2007 Jan; 28(1):19-26. PubMed ID: 17068770
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
    Nasr E; Mamak E; Feigenbaum A; Donner EJ; Mercimek-Mahmutoglu S
    J Child Neurol; 2015 Apr; 30(5):648-53. PubMed ID: 24789515
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
    Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
    Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
    Salomons GS; Bok LA; Struys EA; Pope LL; Darmin PS; Mills PB; Clayton PT; Willemsen MA; Jakobs C
    Ann Neurol; 2007 Oct; 62(4):414-8. PubMed ID: 17721876
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-term outcome in pyridoxine-dependent epilepsy.
    Bok LA; Halbertsma FJ; Houterman S; Wevers RA; Vreeswijk C; Jakobs C; Struys E; Van Der Hoeven JH; Sival DA; Willemsen MA
    Dev Med Child Neurol; 2012 Sep; 54(9):849-54. PubMed ID: 22804844
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.
    Rankin PM; Harrison S; Chong WK; Boyd S; Aylett SE
    Dev Med Child Neurol; 2007 Apr; 49(4):300-5. PubMed ID: 17376142
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
    Tlili A; Hamida Hentati N; Chaabane R; Gargouri A; Fakhfakh F
    Gene; 2013 Apr; 518(2):242-5. PubMed ID: 23376216
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
    Tamaura M; Shimbo H; Iai M; Yamashita S; Osaka H
    Brain Dev; 2015 Apr; 37(4):442-5. PubMed ID: 25123644
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
    Kanno J; Kure S; Narisawa A; Kamada F; Takayanagi M; Yamamoto K; Hoshino H; Goto T; Takahashi T; Haginoya K; Tsuchiya S; Baumeister FA; Hasegawa Y; Aoki Y; Yamaguchi S; Matsubara Y
    Mol Genet Metab; 2007 Aug; 91(4):384-9. PubMed ID: 17433748
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
    Mercimek-Mahmutoglu S; Horvath GA; Coulter-Mackie M; Nelson T; Waters PJ; Sargent M; Struys E; Jakobs C; Stockler-Ipsiroglu S; Connolly MB
    Pediatrics; 2012 May; 129(5):e1368-72. PubMed ID: 22529283
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
    Xue J; Qian P; Li H; Wu Y; Liu X; Yang Z
    Epilepsy Res; 2015 Dec; 118():1-4. PubMed ID: 26555630
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
    Toldo I; Bonardi CM; Bettella E; Polli R; Talenti G; Burlina A; Sartori S; Murgia A
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1042-1053. PubMed ID: 30005813
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.
    Kaczorowska M; Kmiec T; Jakobs C; Kacinski M; Kroczka S; Salomons GS; Struys EA; Jozwiak S
    J Child Neurol; 2008 Dec; 23(12):1455-9. PubMed ID: 18854520
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital cataract in a child with pyridoxine-dependent epilepsy.
    Yusuf IH; Sandford V; Hildebrand GD
    J AAPOS; 2013 Jun; 17(3):315-7. PubMed ID: 23602455
    [TBL] [Abstract][Full Text] [Related]  

  • 20. First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
    Tincheva S; Todorov T; Todorova A; Georgieva R; Stamatov D; Yordanova I; Kadiyska T; Georgieva B; Bojidarova M; Tacheva G; Litvinenko I; Mitev V
    Neurol Sci; 2015 Dec; 36(12):2209-12. PubMed ID: 26232297
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.