MCID: ATS012
MIFTS: 19

Autosomal Dominant Partial Epilepsy with Auditory Features

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Partial Epilepsy with Auditory Features

MalaCards integrated aliases for Autosomal Dominant Partial Epilepsy with Auditory Features:

Name: Autosomal Dominant Partial Epilepsy with Auditory Features 54 26
Autosomal Dominant Lateral Temporal Lobe Epilepsy 54 26
Adpeaf 54 26
Adlte 54 26
Etl1 54 26
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 74
Epilepsy, Partial, with Auditory Features 26

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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UMLS 74 C1838062

Summaries for Autosomal Dominant Partial Epilepsy with Auditory Features

NIH Rare Diseases : 54 Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood. ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).

MalaCards based summary : Autosomal Dominant Partial Epilepsy with Auditory Features, also known as autosomal dominant lateral temporal lobe epilepsy, is related to autosomal dominant epilepsy with auditory features and epilepsy, familial temporal lobe, 7. An important gene associated with Autosomal Dominant Partial Epilepsy with Auditory Features is LGI1 (Leucine Rich Glioma Inactivated 1). Affiliated tissues include temporal lobe, cortex and eye.

Genetics Home Reference : 26 Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. Some people with ADPEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms affecting the senses.

Related Diseases for Autosomal Dominant Partial Epilepsy with Auditory Features

Diseases related to Autosomal Dominant Partial Epilepsy with Auditory Features via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant epilepsy with auditory features 11.6
2 epilepsy, familial temporal lobe, 7 11.4
3 epilepsy, familial temporal lobe, 2 11.2
4 temporal lobe epilepsy 10.6
5 epilepsy, familial temporal lobe, 1 10.6
6 epilepsy 10.6
7 focal epilepsy 10.6
8 skeletal dysplasias 10.2
9 striatal degeneration, autosomal dominant 2 10.2
10 status epilepticus 10.1
11 glioma 10.1

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



Diseases related to Autosomal Dominant Partial Epilepsy with Auditory Features

Symptoms & Phenotypes for Autosomal Dominant Partial Epilepsy with Auditory Features

Drugs & Therapeutics for Autosomal Dominant Partial Epilepsy with Auditory Features

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI in Autosomal Dominant Partial Epilepsy With Auditory Features Completed NCT00072813

Search NIH Clinical Center for Autosomal Dominant Partial Epilepsy with Auditory Features

Genetic Tests for Autosomal Dominant Partial Epilepsy with Auditory Features

Anatomical Context for Autosomal Dominant Partial Epilepsy with Auditory Features

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

42
Temporal Lobe, Cortex, Eye

Publications for Autosomal Dominant Partial Epilepsy with Auditory Features

Articles related to Autosomal Dominant Partial Epilepsy with Auditory Features:

(show all 16)
# Title Authors Year
1
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. ( 28142128 )
2017
2
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. ( 24579982 )
2014
3
A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy. ( 24177143 )
2014
4
Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene. ( 23651915 )
2013
5
Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. ( 19780791 )
2010
6
Abnormal auditory cortex with giant N100m signal in patients with autosomal dominant lateral temporal lobe epilepsy. ( 19793676 )
2009
7
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. ( 19701204 )
2009
8
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 18711109 )
2008
9
Altered language processing in autosomal dominant partial epilepsy with auditory features. ( 19064878 )
2008
10
Asymmetry of long-latency auditory evoked potentials in LGI1-related autosomal dominant lateral temporal lobe epilepsy. ( 16190946 )
2005
11
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 15079011 )
2004
12
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ( 12771268 )
2003
13
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. ( 11810107 )
2002
14
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. ( 11879388 )
2002
15
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. ( 10851389 )
2000
16
Autosomal dominant partial epilepsy with auditory features: description of a new family. ( 10961622 )
2000

Variations for Autosomal Dominant Partial Epilepsy with Auditory Features

Expression for Autosomal Dominant Partial Epilepsy with Auditory Features

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

Pathways for Autosomal Dominant Partial Epilepsy with Auditory Features

GO Terms for Autosomal Dominant Partial Epilepsy with Auditory Features

Sources for Autosomal Dominant Partial 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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