ETL1
MCID: ATS012
MIFTS: 21

Autosomal Dominant Partial Epilepsy with Auditory Features (ETL1)

Categories: Ear diseases, 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 20 43
Autosomal Dominant Lateral Temporal Lobe Epilepsy 20 43
Adpeaf 20 43
Adlte 20 43
Etl1 20 43
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 70
Epilepsy, Partial, with Auditory Features 43

Classifications:



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UMLS 70 C1838062

Summaries for Autosomal Dominant Partial Epilepsy with Auditory Features

MedlinePlus Genetics : 43 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.Seizures associated with ADPEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication.Most people with ADPEAF have seizures described as simple partial seizures, which do not cause a loss of consciousness. These seizures are thought to begin in a part of the brain called the lateral temporal lobe. In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.

MalaCards based summary : Autosomal Dominant Partial Epilepsy with Auditory Features, also known as autosomal dominant lateral temporal lobe epilepsy, is related to epilepsy, familial temporal lobe, 7 and temporal epilepsy, familial. An important gene associated with Autosomal Dominant Partial Epilepsy with Auditory Features is LGI1 (Leucine Rich Glioma Inactivated 1). The drugs Dopamine and Amantadine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and eye.

GARD : 20 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).

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 18)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 7 11.4
2 temporal epilepsy, familial 11.3
3 epilepsy, familial temporal lobe, 2 11.0
4 focal epilepsy 10.7
5 autosomal dominant epilepsy with auditory features 10.7
6 epilepsy, familial temporal lobe, 1 10.6
7 epilepsy 10.5
8 temporal lobe epilepsy 10.4
9 attention deficit-hyperactivity disorder 10.2
10 epilepsy, idiopathic generalized 10.2
11 aphasia 10.2
12 glioma 10.2
13 glial tumor 10.2
14 respiratory failure 9.9
15 glioblastoma 9.9
16 rapidly involuting congenital hemangioma 9.9
17 status epilepticus 9.9
18 depdc5-related epilepsy 9.9

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

Drugs for Autosomal Dominant Partial Epilepsy with Auditory Features (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
2
Amantadine Approved Phase 1 768-94-5 2130
3
Olanzapine Approved, Investigational Phase 1 132539-06-1 4585 135398745
4 Anti-Infective Agents Phase 1
5 Dopamine Agents Phase 1
6 Psychotropic Drugs Phase 1
7 Gastrointestinal Agents Phase 1
8 Antiemetics Phase 1
9 Neurotransmitter Agents Phase 1
10 Antiparkinson Agents Phase 1
11 Serotonin Uptake Inhibitors Phase 1
12 Antiviral Agents Phase 1
13 Antipsychotic Agents Phase 1
14 Analgesics Phase 1
15 Analgesics, Non-Narcotic Phase 1
16
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double Blind Placebo Controlled Investigation of Amantadine for Retarding Weight Gain in First Episode Adlt Psychotic Subjects Beginning Therapy With Olanzapine. Completed NCT00287352 Phase 1 Olanzapine, Amantadine;Olanzapine and placebo
2 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:

40
Temporal Lobe, Brain, Eye

Publications for Autosomal Dominant Partial Epilepsy with Auditory Features

Articles related to Autosomal Dominant Partial Epilepsy with Auditory Features:

(show all 34)
# Title Authors PMID Year
1
Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22. 61
31432233 2020
2
A novel LGI1 missense mutation causes dysfunction in cortical neuronal migration and seizures. 61
31301272 2019
3
SMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulation. 61
26888216 2016
4
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. 61
24579982 2014
5
LGI proteins in the nervous system. 61
23713523 2013
6
A rat model for LGI1-related epilepsies. 61
22589250 2012
7
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF. 61
22323750 2012
8
Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral and central nervous systems. 61
20857514 2010
9
Evaluation of depression risk in LGI1 mutation carriers. 61
20659151 2010
10
Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability. 61
20130004 2010
11
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 61
20133599 2010
12
LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology. 61
19796686 2009
13
The SNF2-family member Fun30 promotes gene silencing in heterochromatic loci. 61
19956593 2009
14
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 61
19191227 2009
15
Altered language processing in autosomal dominant partial epilepsy with auditory features. 61
19064878 2008
16
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 61
18711109 2008
17
Expression profile of Lgi1 gene in mouse brain during development. 61
18563303 2008
18
Unpleasant auditory illusions and related avoidance behaviour in a child. 61
18367430 2008
19
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 61
16990550 2006
20
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 61
15857855 2005
21
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. 61
15090473 2004
22
LGI1 mutations in temporal lobe epilepsies. 61
15079010 2004
23
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 61
15079011 2004
24
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 61
12771268 2003
25
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. 61
12601709 2003
26
Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q. 61
12446220 2002
27
A common protein interaction domain links two recently identified epilepsy genes. 61
12095917 2002
28
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 61
11810107 2002
29
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. 61
11879388 2002
30
Progress in the genetics of the partial epilepsies. 61
11887964 2001
31
Autosomal dominant partial epilepsy with auditory features: description of a new family. 61
10961622 2000
32
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. 61
10851389 2000
33
Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. 61
10415348 1999
34
Isolation and partial characterization of N-acetyl-D-galactosamine-binding lectins from Epiphragmophora trenquelleonis snail. 61
8882733 1996

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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