MCID: FLN005
MIFTS: 12

Folinic Acid-Responsive Seizures malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Folinic Acid-Responsive Seizures

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Folinic Acid-Responsive Seizures:

Name: Folinic Acid-Responsive Seizures 51

Characteristics:

Orphanet epidemiological data:

51
folinic acid-responsive seizures:
Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 79097
ICD10 via Orphanet28 G40.3

Summaries for Folinic Acid-Responsive Seizures

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MalaCards based summary: Folinic Acid-Responsive Seizures is related to cerebritis and cerebral folate deficiency. An important gene associated with Folinic Acid-Responsive Seizures is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1). Affiliated tissues include cortex, lung and breast.

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
1cerebritis10.0
2cerebral 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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MalaCards organs/tissues related to Folinic Acid-Responsive Seizures:

33
Cortex, Lung, Breast

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet