MCID: EPL014
MIFTS: 12

Epilepsy, Partial, Familial

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Partial, Familial

MalaCards integrated aliases for Epilepsy, Partial, Familial:

Name: Epilepsy, Partial, Familial 53
Familial Partial Epilepsy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G40.1
Orphanet 59 ORPHA309

Summaries for Epilepsy, Partial, Familial

MalaCards based summary : Epilepsy, Partial, Familial, also known as familial partial epilepsy, is related to epilepsy, familial focal, with variable foci 1 and focal epilepsy. Affiliated tissues include temporal lobe.

Related Diseases for Epilepsy, Partial, Familial

Diseases related to Epilepsy, Partial, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 1 11.8
2 focal epilepsy 10.2
3 autosomal dominant epilepsy with auditory features 10.0
4 visual epilepsy 10.0
5 seizure disorder 10.0
6 autosomal dominant nocturnal frontal lobe epilepsy 9.9
7 epilepsy 9.9
8 epileptic encephalopathy, early infantile, 6 9.7
9 generalized epilepsy with febrile seizures plus 9.7
10 temporal lobe epilepsy 9.7
11 genetic epilepsy with febrile seizures plus 9.7
12 febrile seizures 9.7

Graphical network of the top 20 diseases related to Epilepsy, Partial, Familial:



Diseases related to Epilepsy, Partial, Familial

Symptoms & Phenotypes for Epilepsy, Partial, Familial

Drugs & Therapeutics for Epilepsy, Partial, Familial

Search Clinical Trials , NIH Clinical Center for Epilepsy, Partial, Familial

Genetic Tests for Epilepsy, Partial, Familial

Anatomical Context for Epilepsy, Partial, Familial

MalaCards organs/tissues related to Epilepsy, Partial, Familial:

41
Temporal Lobe

Publications for Epilepsy, Partial, Familial

Articles related to Epilepsy, Partial, Familial:

(show all 20)
# Title Authors PMID Year
1
Study of candidate gene cHRNA4 for familial epilepsy syndrome. 38
29630124 2018
2
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. 38
22151702 2012
3
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 38
21753767 2011
4
Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. 38
20659149 2010
5
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation. 38
20478764 2010
6
Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy. 38
19539447 2009
7
[Clinical and epidemiological features of the five kinds of new epileptic syndrome]. 38
17313825 2006
8
Predicting disease genes using protein-protein interactions. 38
16611749 2006
9
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. 38
16256272 2006
10
Genetic focal epilepsies: state of the art and paths to the future. 38
16359475 2005
11
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. 38
15329069 2004
12
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. 38
14510823 2003
13
Familial temporal lobe epilepsy with febrile seizures. 38
12011300 2002
14
Progress in the genetics of the partial epilepsies. 38
11887964 2001
15
Familial aphasic episodes: another variant of partial epilepsy with simple inheritance? 38
10961632 2000
16
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. 38
10577924 1999
17
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. 38
9851433 1998
18
[Genetics of the partial epilepsy]. 38
9052957 1996
19
Familial temporal lobe epilepsy: a common disorder identified in twins. 38
8773604 1996
20
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 38
7550350 1995

Variations for Epilepsy, Partial, Familial

Expression for Epilepsy, Partial, Familial

Search GEO for disease gene expression data for Epilepsy, Partial, Familial.

Pathways for Epilepsy, Partial, Familial

GO Terms for Epilepsy, Partial, Familial

Sources for Epilepsy, Partial, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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