MCID: FLN005
MIFTS: 10

Folinic Acid-Responsive Seizures malady

Neuronal diseases, Rare diseases categories

Summaries for Folinic Acid-Responsive Seizures

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Sources:
34MalaCards
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MalaCards: Folinic Acid-Responsive Seizures is related to pyridoxine-dependent epilepsy. An important gene associated with Folinic Acid-Responsive Seizures is ALDH7A1 (aldehyde dehydrogenase 7 family, member A1).

Aliases & Classifications for Folinic Acid-Responsive Seizures

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Sources:
50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
folinic acid-responsive seizures:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

folinic acid-responsive seizures 50


External Ids:

ICD10 via Orphanet27 G40.3

Related Diseases for Folinic Acid-Responsive Seizures

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Folinic Acid-Responsive Seizures via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pyridoxine-dependent epilepsy10.3

Symptoms for Folinic Acid-Responsive Seizures

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Drugs & Therapeutics for Folinic Acid-Responsive Seizures

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Folinic Acid-Responsive Seizures

Drug clinical trials:

Search ClinicalTrials for Folinic Acid-Responsive Seizures

Search NIH Clinical Center for Folinic Acid-Responsive Seizures

Search CenterWatch for Folinic Acid-Responsive Seizures

Genetic Tests for Folinic Acid-Responsive Seizures

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Anatomical Context for Folinic Acid-Responsive Seizures

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Animal Models for Folinic Acid-Responsive Seizures or affiliated genes

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Publications for Folinic Acid-Responsive Seizures

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Sources:
53PubMed
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Articles related to Folinic Acid-Responsive Seizures:

idTitleAuthorsYear
1
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
2
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. (19142996)
2009
3
Folinic acid-responsive seizures initially responsive to pyridoxine. (16458834)
2006
4
Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy. (13677584)
2003
5
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. (12597055)
2002
6
Folinic acid responsive seizures: a new syndrome? (7564240)
1995

Variations for Folinic Acid-Responsive Seizures

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Expression for genes affiliated with Folinic Acid-Responsive Seizures

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Folinic Acid-Responsive Seizures

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

Pathways for genes affiliated with Folinic Acid-Responsive Seizures

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Compounds for genes affiliated with Folinic Acid-Responsive Seizures

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GO Terms for genes affiliated with Folinic Acid-Responsive Seizures

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Products for genes affiliated with Folinic Acid-Responsive Seizures

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Folinic Acid-Responsive Seizures

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet