ADEAF
MCID: ATS301
MIFTS: 22

Autosomal Dominant Epilepsy with Auditory Features (ADEAF)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Epilepsy with Auditory Features

MalaCards integrated aliases for Autosomal Dominant Epilepsy with Auditory Features:

Name: Autosomal Dominant Epilepsy with Auditory Features 25 60
Adlte 25 60
Adeaf 25 60
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 74
Autosomal Dominant Lateral Temporal Lobe Epilepsy 60
Autosomal Dominant Lateral Temporal Epilepsy 25
Partial Epilepsy with Auditory Features 60
Partial Epilepsy with Auditory Aura 60
Adpeaf 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant epilepsy with auditory features
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

GeneReviews:

25
Penetrance Estimates of penetrance in studies of families with adeaf range from 54% to 85% [ottman et al 1995, poza et al 1999, ottman et al 2004, wang et al 2006]. this variability may in part result from the use of different statistical models...

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

UMLS via Orphanet 75 C1838062
Orphanet 60 ORPHA101046
UMLS 74 C1838062

Summaries for Autosomal Dominant Epilepsy with Auditory Features

MalaCards based summary : Autosomal Dominant Epilepsy with Auditory Features, also known as adlte, is related to epilepsy, familial temporal lobe, 1 and temporal lobe epilepsy. An important gene associated with Autosomal Dominant Epilepsy with Auditory Features is LGI1 (Leucine Rich Glioma Inactivated 1). Affiliated tissues include temporal lobe, and related phenotypes are behavior/neurological and growth/size/body region

GeneReviews: NBK1537

Related Diseases for Autosomal Dominant Epilepsy with Auditory Features

Graphical network of the top 20 diseases related to Autosomal Dominant Epilepsy with Auditory Features:



Diseases related to Autosomal Dominant Epilepsy with Auditory Features

Symptoms & Phenotypes for Autosomal Dominant Epilepsy with Auditory Features

MGI Mouse Phenotypes related to Autosomal Dominant Epilepsy with Auditory Features:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.46 CNTNAP2 DEPDC5 LGI1 RELN
2 growth/size/body region MP:0005378 9.26 CNTNAP2 DEPDC5 LGI1 RELN
3 nervous system MP:0003631 8.92 CNTNAP2 DEPDC5 LGI1 RELN

Drugs & Therapeutics for Autosomal Dominant Epilepsy with Auditory Features

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Epilepsy with Auditory Features

Genetic Tests for Autosomal Dominant Epilepsy with Auditory Features

Anatomical Context for Autosomal Dominant Epilepsy with Auditory Features

MalaCards organs/tissues related to Autosomal Dominant Epilepsy with Auditory Features:

42
Temporal Lobe

Publications for Autosomal Dominant Epilepsy with Auditory Features

Articles related to Autosomal Dominant Epilepsy with Auditory Features:

# Title Authors Year
1
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features. ( 29179159 )
2018
2
Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1). ( 29034879 )
2017
3
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia. ( 26459092 )
2015
4
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. ( 24206907 )
2013

Variations for Autosomal Dominant Epilepsy with Auditory Features

Expression for Autosomal Dominant Epilepsy with Auditory Features

Search GEO for disease gene expression data for Autosomal Dominant Epilepsy with Auditory Features.

Pathways for Autosomal Dominant Epilepsy with Auditory Features

GO Terms for Autosomal Dominant Epilepsy with Auditory Features

Biological processes related to Autosomal Dominant Epilepsy with Auditory Features according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.32 CNTNAP2 RELN
2 axon guidance GO:0007411 9.26 LGI1 RELN
3 neuron projection development GO:0031175 9.16 CNTNAP2 LGI1
4 cerebral cortex development GO:0021987 8.96 CNTNAP2 RELN
5 learning GO:0007612 8.62 CNTNAP2 RELN

Sources for Autosomal Dominant Epilepsy with Auditory Features

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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