MCID: FLN005
MIFTS: 11

Folinic Acid-Responsive Seizures

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Folinic Acid-Responsive Seizures

MalaCards integrated aliases for Folinic Acid-Responsive Seizures:

Name: Folinic Acid-Responsive Seizures 58

Characteristics:

Orphanet epidemiological data:

58
folinic acid-responsive seizures
Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 G40.3
Orphanet 58 ORPHA79097

Summaries for Folinic Acid-Responsive Seizures

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

Related Diseases for Folinic Acid-Responsive Seizures

Diseases related to Folinic Acid-Responsive Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 seizure disorder 10.5
2 epilepsy, pyridoxine-dependent 10.4
3 autosomal recessive disease 10.1
4 epilepsy 10.1
5 inherited metabolic disorder 10.1
6 polg-related disorders 10.1
7 encephalopathy 10.1
8 infantile epilepsy syndrome 10.1

Graphical network of the top 20 diseases related to Folinic Acid-Responsive Seizures:



Diseases related to Folinic Acid-Responsive Seizures

Symptoms & Phenotypes for Folinic Acid-Responsive Seizures

Drugs & Therapeutics for Folinic Acid-Responsive Seizures

Search Clinical Trials , NIH Clinical Center for Folinic Acid-Responsive Seizures

Genetic Tests for Folinic Acid-Responsive Seizures

Anatomical Context for Folinic Acid-Responsive Seizures

Publications for Folinic Acid-Responsive Seizures

Articles related to Folinic Acid-Responsive Seizures:

(show all 14)
# Title Authors PMID Year
1
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. 61
25274592 2014
2
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. 61
24315539 2014
3
[Vitamin-responsive epilepsies: an update]. 61
24080039 2013
4
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 61
21704546 2011
5
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity. 61
21338592 2011
6
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. 61
19631689 2009
7
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 61
19142996 2009
8
Folate-responsive neurologic diseases. 61
18021918 2007
9
Folinic acid-responsive seizures initially responsive to pyridoxine. 61
16458834 2006
10
Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy. 61
13677584 2003
11
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. 61
12597055 2002
12
Clinical approach to inherited metabolic disorders in neonates: an overview. 61
12069534 2002
13
Cerebrospinal fluid investigations for neurometabolic disorders. 61
9638660 1998
14
Folinic acid responsive seizures: a new syndrome? 61
7564240 1995

Variations for Folinic Acid-Responsive Seizures

Expression for Folinic Acid-Responsive Seizures

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

Pathways for Folinic Acid-Responsive Seizures

GO Terms for Folinic Acid-Responsive Seizures

Sources for Folinic Acid-Responsive Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....