MCID: FLN005
MIFTS: 11

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 55

Characteristics:

Orphanet epidemiological data:

55
folinic acid-responsive seizures
Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA79097
ICD10 via Orphanet 33 G40.3

Summaries for Folinic Acid-Responsive Seizures

MalaCards based summary : Folinic Acid-Responsive Seizures is related to epilepsy and cerebral folate deficiency. 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 cerebral folate deficiency 10.0
3 epilepsy, pyridoxine-dependent 10.0
4 cerebritis 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
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. ( 19142996 )
2009
3
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
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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