MCID: FLN005
MIFTS: 10

Folinic Acid-Responsive Seizures

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Folinic Acid-Responsive Seizures

MalaCards integrated aliases for Folinic Acid-Responsive Seizures:

Name: Folinic Acid-Responsive Seizures 59

Characteristics:

Orphanet epidemiological data:

59
folinic acid-responsive seizures
Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA79097
ICD10 via Orphanet 34 G40.3

Summaries for Folinic Acid-Responsive Seizures

MalaCards based summary : Folinic Acid-Responsive Seizures is related to epilepsy and epilepsy, pyridoxine-dependent. An important gene associated with Folinic Acid-Responsive Seizures is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1).

Related Diseases for Folinic Acid-Responsive Seizures

Diseases related to Folinic Acid-Responsive Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.1
2 epilepsy, pyridoxine-dependent 10.0
3 cerebritis 10.0
4 cerebral folate deficiency 10.0

Symptoms & Phenotypes for Folinic Acid-Responsive Seizures

Drugs & Therapeutics for Folinic Acid-Responsive Seizures

Search Clinical Trials , NIH Clinical Center for Folinic Acid-Responsive Seizures

Genetic Tests for Folinic Acid-Responsive Seizures

Anatomical Context for Folinic Acid-Responsive Seizures

Publications for Folinic Acid-Responsive Seizures

Articles related to Folinic Acid-Responsive Seizures:

# Title Authors Year
1
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. ( 25274592 )
2014
2
Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. ( 19631689 )
2009
3
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. ( 19142996 )
2009
4
Folinic acid-responsive seizures initially responsive to pyridoxine. ( 16458834 )
2006
5
Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy. ( 13677584 )
2003
6
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. ( 12597055 )
2002
7
Folinic acid responsive seizures: a new syndrome? ( 7564240 )
1995

Variations for Folinic Acid-Responsive Seizures

Expression for Folinic Acid-Responsive Seizures

Search GEO for disease gene expression data for Folinic Acid-Responsive Seizures.

Pathways for Folinic Acid-Responsive Seizures

GO Terms for Folinic Acid-Responsive Seizures

Sources for Folinic Acid-Responsive Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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