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:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Folinic Acid-Responsive Seizures:

Name: Folinic Acid-Responsive Seizures 52

Characteristics:

Orphanet epidemiological data:

52
folinic acid-responsive seizures:
Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA79097
ICD10 via Orphanet29 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
1epilepsy10.2
2cerebritis10.0
3cerebral folate deficiency10.0

Symptoms 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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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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet