MCID: FLN005
MIFTS: 10

Folinic Acid-Responsive Seizures malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Folinic Acid-Responsive Seizures

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Folinic Acid-Responsive Seizures:

Name: Folinic Acid-Responsive Seizures 54

Characteristics:

Orphanet epidemiological data:

54
folinic acid-responsive seizures:
Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA79097
ICD10 via Orphanet31 G40.3

Summaries for Folinic Acid-Responsive Seizures

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

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.1
2cerebritis9.9
3cerebral folate deficiency9.9

Symptoms & Phenotypes for Folinic Acid-Responsive Seizures

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Drugs & Therapeutics for Folinic Acid-Responsive Seizures

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Interventional clinical trials:

Search ClinicalTrials, 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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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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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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GO Terms for genes affiliated with Folinic Acid-Responsive Seizures

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Sources for Folinic Acid-Responsive Seizures

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet