Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures

Arquivos de Neuro-Psiquiatria

Volumn 66, Issue 2 A, 2008, Pages 288-

  Been, Jasper V ^a   Bok, Levinus A ^b   Willemsen, Michèl A A P ^c   Struys, Eduard A ^d   Jakobs, Cornelis ^d  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MÁXIMA MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALLYSINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE;

CEREBROSPINAL FLUID; DNA DETERMINATION; GENE MUTATION; GENE POOL; LETTER; PYRIDOXINE DEFICIENCY; SEIZURE; URINARY EXCRETION;

EID: 45849101629     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2008000200035     Document Type: Letter

References (7)

1. Lin J, Lin K, Masruha MR, Vilanova LC. Pyridoxine-dependent epilepsy initially responsive to phenobarbital. Arq Neuropsiquiatr 2007;65:1026-1029.
2. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999;81:431-433.
3. Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006;12:307-309.
4. Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007;28:19-26.
5. Salomons GS, Bok LA, Struys EA, et al. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 2007;62:414-418.
6. Kanno J, Kure S, Narisawa A, et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 2007;91:384-389.
7. Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child 2007;92:687-689.