MCID: ATS301
MIFTS: 16

Autosomal Dominant Epilepsy with Auditory Features

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 59
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 73
Autosomal Dominant Lateral Temporal Lobe Epilepsy 59
Partial Epilepsy with Auditory Features 59
Partial Epilepsy with Auditory Aura 59
Adpeaf 59
Adlte 59
Adeaf 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant epilepsy with auditory features
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA101046
UMLS via Orphanet 74 C1838062
UMLS 73 C1838062

Summaries for Autosomal Dominant Epilepsy with Auditory Features

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

Related Diseases for Autosomal Dominant Epilepsy with Auditory Features

Diseases related to Autosomal Dominant 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 30.7 LGI1 RELN
2 epilepsy 28.4 DEPDC5 LGI1 RELN
3 autosomal dominant partial epilepsy with auditory features 11.2
4 epilepsy, familial temporal lobe, 3 9.7 DEPDC5 LGI1
5 benign epilepsy with centrotemporal spikes 9.3 DEPDC5 RELN
6 focal epilepsy 9.2 DEPDC5 LGI1
7 temporal lobe epilepsy 9.1 LGI1 RELN

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

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:

41
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
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia. ( 26459092 )
2015
3
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. ( 24206907 )
2013

Variations for Autosomal Dominant Epilepsy with Auditory Features

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

6
(show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI1 LGI1, 1-BP DEL, 835C 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 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh38 Chromosome 10, 93797277: 93797277
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 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh38 Chromosome 10, 93758280: 93758280
7 LGI1 LGI1, 1320C-T single nucleotide variant Pathogenic
8 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh37 Chromosome 10, 95556839: 95556839
9 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh38 Chromosome 10, 93797082: 93797082
10 LGI1 LGI1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
11 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh37 Chromosome 10, 95552964: 95552964
12 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh38 Chromosome 10, 93793207: 93793207
13 LGI1 NM_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh37 Chromosome 10, 95537349: 95537349
14 LGI1 NM_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh38 Chromosome 10, 93777592: 93777592
15 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh37 Chromosome 10, 95537308: 95537308
16 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh38 Chromosome 10, 93777551: 93777551
17 LGI1 LGI1, 81-KB DEL deletion Pathogenic
18 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Benign rs148862146 GRCh37 Chromosome 10, 95552596: 95552596
19 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Benign rs148862146 GRCh38 Chromosome 10, 93792839: 93792839
20 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh37 Chromosome 10, 95553081: 95553081
21 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh38 Chromosome 10, 93793324: 93793324
22 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh37 Chromosome 10, 95557555: 95557555
23 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh38 Chromosome 10, 93797798: 93797798
24 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh38 Chromosome 10, 93797142: 93797142
25 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh37 Chromosome 10, 95556899: 95556899
26 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
27 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
28 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
29 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
30 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh37 Chromosome 10, 95553027: 95553027
31 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh38 Chromosome 10, 93793270: 93793270
32 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh38 Chromosome 10, 93797547: 93797547
33 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh37 Chromosome 10, 95557304: 95557304
34 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh38 Chromosome 10, 93797549: 93797549
35 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh37 Chromosome 10, 95557306: 95557306
36 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh38 Chromosome 10, 93704377: 93785620
37 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh37 Chromosome 10, 95464133: 95545376
38 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh38 Chromosome 10, 93792896: 93792896
39 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh37 Chromosome 10, 95552653: 95552653
40 LGI1 NM_005097.3(LGI1): c.-168G> A single nucleotide variant Uncertain significance rs879390887 GRCh37 Chromosome 10, 95517734: 95517734
41 LGI1 NM_005097.3(LGI1): c.-168G> A single nucleotide variant Uncertain significance rs879390887 GRCh38 Chromosome 10, 93757977: 93757977
42 LGI1 NM_005097.3(LGI1): c.135G> C (p.Val45=) single nucleotide variant Uncertain significance rs768003944 GRCh37 Chromosome 10, 95518036: 95518036
43 LGI1 NM_005097.3(LGI1): c.135G> C (p.Val45=) single nucleotide variant Uncertain significance rs768003944 GRCh38 Chromosome 10, 93758279: 93758279
44 LGI1 NM_005097.3(LGI1): c.1125G> C (p.Ala375=) single nucleotide variant Uncertain significance rs886047487 GRCh37 Chromosome 10, 95557011: 95557011
45 LGI1 NM_005097.3(LGI1): c.1125G> C (p.Ala375=) single nucleotide variant Uncertain significance rs886047487 GRCh38 Chromosome 10, 93797254: 93797254
46 LGI1 NM_005097.3(LGI1): c.1336A> C (p.Ile446Leu) single nucleotide variant Uncertain significance rs769204967 GRCh37 Chromosome 10, 95557222: 95557222
47 LGI1 NM_005097.3(LGI1): c.1336A> C (p.Ile446Leu) single nucleotide variant Uncertain significance rs769204967 GRCh38 Chromosome 10, 93797465: 93797465
48 LGI1 NM_005097.3(LGI1): c.*215T> C single nucleotide variant Likely benign rs17502662 GRCh37 Chromosome 10, 95557775: 95557775
49 LGI1 NM_005097.3(LGI1): c.*215T> C single nucleotide variant Likely benign rs17502662 GRCh38 Chromosome 10, 93798018: 93798018
50 LGI1 NM_005097.3(LGI1): c.*59T> A single nucleotide variant Uncertain significance rs886047488 GRCh37 Chromosome 10, 95557619: 95557619

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 axon guidance GO:0007411 8.62 LGI1 RELN

Sources for Autosomal Dominant Epilepsy with Auditory Features

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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