MCID: ATS012
MIFTS: 16

Autosomal Dominant Partial Epilepsy with Auditory Features

Categories: 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 23 49 24
Autosomal Dominant Lateral Temporal Lobe Epilepsy 23 49 24
Adpeaf 23 49 24
Adlte 23 49 24
Etl1 49 24
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 69
Epilepsy, Partial, with Auditory Features 24
Adeaf 23

Characteristics:

GeneReviews:

23
Penetrance Penetrance is incomplete. penetrance of lgi1 pathogenic variants is estimated at 67% (95% ci 55%-77%) [rosanoff & ottman 2008], based on analysis of obligate heterozygotes in 24 published families. in three large families, penetrance was estimated at 71%, 78%, and 60%-80% [ottman et al 1995, poza et al 1999]. in a study that attempted to control for ascertainment bias by considering only family members who did not lead to the selection of families for study, penetrance was estimated at 54% (95% confidence interval 34%-71%) [ottman et al 2004]. an additional study estimated penetrance of lgi1 pathogenic variants to be 85% based on a statistical model [wang et al 2006]. in seven families with pathogenic variants in reln, 20/33 (60%) of variant carriers had epilepsy [dazzo et al 2015a]. similarly, in 33 families with adpeaf, penetrance was estimated at 61% in ten families with an lgi1 pathogenic variant, but only 35% in families without an identified pathogenic variant, suggesting that inheritance may be complex in some families [michelucci et al 2013]. all of these estimates are likely to be inflated by ascertainment bias, since they are based on families selected for study because they contained many affected individuals...

Classifications:



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UMLS 69 C1838062

Summaries for Autosomal Dominant Partial Epilepsy with Auditory Features

NIH Rare Diseases : 49 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). Last updated: 3/31/2016

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, 1 and autosomal dominant epilepsy with auditory features. An important gene associated with Autosomal Dominant Partial Epilepsy with Auditory Features is LGI1 (Leucine Rich Glioma Inactivated 1). Affiliated tissues include temporal lobe.

Genetics Home Reference : 24 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.

GeneReviews: NBK1537

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:

# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 1 11.7
2 autosomal dominant epilepsy with auditory features 10.9
3 epilepsy 10.5

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:

38
Temporal Lobe

Publications for Autosomal Dominant Partial Epilepsy with Auditory Features

Articles related to Autosomal Dominant Partial Epilepsy with Auditory Features:

# Title Authors Year
1
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. ( 24579982 )
2014
2
Altered language processing in autosomal dominant partial epilepsy with auditory features. ( 19064878 )
2008
3
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 18711109 )
2008
4
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 15079011 )
2004
5
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ( 12771268 )
2003
6
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. ( 11810107 )
2002
7
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. ( 11879388 )
2002
8
Autosomal dominant partial epilepsy with auditory features: description of a new family. ( 10961622 )
2000
9
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. ( 10851389 )
2000
10
Autosomal Dominant Partial Epilepsy with Auditory Features ( 20301709 )
1993

Variations for Autosomal Dominant Partial Epilepsy with Auditory Features

ClinVar genetic disease variations for Autosomal Dominant Partial Epilepsy with Auditory Features:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI1 LGI1, 81-KB DEL deletion Pathogenic
2 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh37 Chromosome 10, 95557034: 95557034
3 LGI1 LGI1, 1-BP DEL, 835C deletion Pathogenic
4 LGI1 LGI1, IVS3AS, C-A, -3 single nucleotide variant Pathogenic
5 LGI1 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh37 Chromosome 10, 95518037: 95518037
6 LGI1 LGI1, 1320C-T single nucleotide variant Pathogenic
7 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh37 Chromosome 10, 95556839: 95556839
8 LGI1 LGI1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
9 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh37 Chromosome 10, 95552964: 95552964
10 LGI1 NM_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh37 Chromosome 10, 95537349: 95537349
11 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh37 Chromosome 10, 95537308: 95537308
12 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh38 Chromosome 10, 93797142: 93797142
13 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
14 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
15 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh37 Chromosome 10, 95553027: 95553027
16 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh38 Chromosome 10, 93797547: 93797547
17 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh38 Chromosome 10, 93797549: 93797549
18 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh38 Chromosome 10, 93704377: 93785620
19 LGI1 NM_005097.3(LGI1): c.688C> T (p.Gln230Ter) single nucleotide variant Pathogenic rs1060502054 GRCh38 Chromosome 10, 93793200: 93793200
20 LGI1 NM_005097.3(LGI1): c.1128G> A (p.Trp376Ter) single nucleotide variant Pathogenic rs1060502053 GRCh38 Chromosome 10, 93797257: 93797257
21 LGI1 NM_005097.3(LGI1): c.1256T> G (p.Leu419Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 93797385: 93797385

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

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