MCID: FLN005
MIFTS: 12

Folinic Acid-Responsive Seizures malady

Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Folinic Acid-Responsive Seizures

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MalaCards based summary: Folinic Acid-Responsive Seizures is related to cerebritis and 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:
48Orphanet, 26ICD10 via Orphanet
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Folinic Acid-Responsive Seizures, Aliases & Descriptions:

Name: Folinic Acid-Responsive Seizures 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
folinic acid-responsive seizures:
Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 G40.3

Related Diseases for Folinic Acid-Responsive Seizures

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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
1cerebritis10.3
2pyridoxine-dependent epilepsy10.3
3cerebral folate deficiency10.3

Symptoms for Folinic Acid-Responsive Seizures

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Drugs & Therapeutics for Folinic Acid-Responsive Seizures

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Drug clinical trials:

Search ClinicalTrials for Folinic Acid-Responsive Seizures

Search NIH Clinical Center 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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Articles related to Folinic Acid-Responsive Seizures:

idTitleAuthorsYear
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

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Expression for genes affiliated with Folinic Acid-Responsive Seizures

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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

Sources for Folinic Acid-Responsive Seizures

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet