X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (120) 120
pyridoxine-dependent epilepsy (110) 110
index medicus (103) 103
epilepsy (98) 98
seizures (88) 88
clinical neurology (74) 74
pediatrics (70) 70
pyridoxine-dependent seizures (50) 50
male (48) 48
antiquitin (45) 45
epilepsy - genetics (45) 45
female (44) 44
child (40) 40
infant (40) 40
infant, newborn (38) 38
mutations (37) 37
aldehyde dehydrogenase - genetics (36) 36
diagnosis (36) 36
aldh7a1 (32) 32
neurology (32) 32
child, preschool (30) 30
pyridoxine - therapeutic use (28) 28
pyridoxine (27) 27
epilepsy - diagnosis (26) 26
genetics & heredity (26) 26
mutation (26) 26
deficiency (25) 25
epilepsy - drug therapy (24) 24
electroencephalography (23) 23
encephalopathy (21) 21
neurosciences (21) 21
responsive seizures (21) 21
epilepsy - etiology (19) 19
metabolism (19) 19
pyridoxine dependent epilepsy (19) 19
vitamin b6 (19) 19
analysis (18) 18
anticonvulsants - therapeutic use (18) 18
pipecolic acid (18) 18
adolescent (17) 17
biochemistry & molecular biology (17) 17
endocrinology & metabolism (16) 16
genetic aspects (16) 16
medicine, research & experimental (16) 16
animals (15) 15
physiological aspects (15) 15
seizures - drug therapy (15) 15
magnetic resonance imaging (14) 14
seizures - etiology (14) 14
children (13) 13
infants (13) 13
lysine (13) 13
molybdenum cofactor deficiency (13) 13
vitamin b complex - therapeutic use (13) 13
cerebrospinal-fluid (12) 12
genetics (12) 12
medicine & public health (12) 12
phenotype (12) 12
2-aminoadipic acid - analogs & derivatives (11) 11
alpha-aminoadipic semialdehyde (11) 11
arginine supplementation (11) 11
care and treatment (11) 11
epilepsy - physiopathology (11) 11
infantile spasms (11) 11
mutation - genetics (11) 11
nonketotic hyperglycinemia (11) 11
seizures - genetics (11) 11
adult (10) 10
dietary supplements (10) 10
genes (10) 10
pyridoxine - administration & dosage (10) 10
status epilepticus (10) 10
treatment outcome (10) 10
aldh7a1 gene (9) 9
antiquitin aldh7a1 (9) 9
epilepsy - metabolism (9) 9
epilepsy - pathology (9) 9
epilepsy - therapy (9) 9
follow-up (9) 9
gene (9) 9
genetic research (9) 9
inborn errors of metabolism (9) 9
metabolic diseases (9) 9
metabolism, inborn errors - complications (9) 9
neonatal seizures (9) 9
seizure (9) 9
semialdehyde dehydrogenase-deficiency (9) 9
therapy (9) 9
article (8) 8
biotinidase deficiency (8) 8
brain - pathology (8) 8
convulsions & seizures (8) 8
diagnosis, differential (8) 8
enzymes (8) 8
gaba (8) 8
inborn-errors (8) 8
metabolic disorders (8) 8
mri (8) 8
mutation, missense (8) 8
seizures - diagnosis (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatric Clinics of North America, ISSN 0031-3955, 06/2015, Volume 62, Issue 3, pp. 703 - 722
Journal Article
Journal Article
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 4, pp. 1501 - 1518
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures,... 
Metabolic epilepsy | Aldh7a1 | Pyridoxine-dependent epilepsy | Lysine metabolism | Zebrafish model | aldh7a1 | DIAGNOSIS | LYSINE CATABOLISM | ARGININE SUPPLEMENTATION | ANTIQUITIN | zebrafish model | metabolic epilepsy | pyridoxine-dependent epilepsy | PIPECOLIC ACID | SEIZURES | GENETICS & HEREDITY | SACCHAROPINE PATHWAY | GENE-EXPRESSION | GABA | MUTATIONS | lysine metabolism | Lysine - deficiency | gamma-Aminobutyric Acid - genetics | Seizures - genetics | Vitamin B 6 - metabolism | gamma-Aminobutyric Acid - metabolism | Humans | Aldehyde Dehydrogenase - genetics | Epilepsy - metabolism | Seizures - metabolism | Pyridoxine - metabolism | Epilepsy - physiopathology | Gene Knockout Techniques | Vitamin B 6 - genetics | Zebrafish - genetics | Seizures - physiopathology | Animals | Aldehyde Dehydrogenase - deficiency | Epilepsy - genetics | Lysine - metabolism | Mutation | Disease Models, Animal | Behavior | Research | Gene expression | Zebra fish | Epilepsy | Analysis | Phosphates | Neonates | Larvae | Pathogenesis | Disabilities | Neurodevelopmental disorders | Phosphatase | Degradation | γ-Aminobutyric acid | Bioindicators | Supplementation | Seizures | Seizing | CRISPR | Zebrafish | Mass spectroscopy | Pyridoxine | Metabolism | Embryos | Mutants | Life span | Lysine | Biomarkers | Scientific imaging | Genetic engineering | Mass spectrometry | Vitamin B6 | Investigations
Journal Article
Epilepsia, ISSN 0013-9580, 10/2015, Volume 56, Issue 10, pp. 1505 - 1514
Journal Article