ADEAF
MCID: ATS301
MIFTS: 41

Autosomal Dominant Epilepsy with Auditory Features (ADEAF)

Categories: Ear diseases, 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 58
Adlte 25 58
Adeaf 25 58
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 70
Autosomal Dominant Lateral Temporal Lobe Epilepsy 58
Autosomal Dominant Lateral Temporal Epilepsy 25
Partial Epilepsy with Auditory Features 58
Partial Epilepsy with Auditory Aura 58
Adpeaf 58

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 71 C1838062
Orphanet 58 ORPHA101046
UMLS 70 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 temporal lobe epilepsy and focal epilepsy. An important gene associated with Autosomal Dominant 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, thymus and cortex, and related phenotypes are intellectual disability and depressivity

GeneReviews: NBK1537

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:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 temporal lobe epilepsy 30.5 RELN LGI1
2 focal epilepsy 30.0 LGI1 DEPDC5 CNTNAP2
3 epilepsy, familial temporal lobe, 7 29.9 RELN LOC101927870 LGI1
4 epilepsy, familial temporal lobe, 1 29.7 RELN MICAL1 LGI1 CNTNAP2
5 status epilepticus 29.6 LGI1 GAL
6 epilepsy 28.5 RELN MICAL1 LOC101927870 LGI1 GAL DEPDC5
7 temporal epilepsy, familial 11.1
8 autosomal dominant partial epilepsy with auditory features 11.1
9 attention deficit-hyperactivity disorder 10.2
10 cerebellopontine angle meningioma 10.1 LGI1 CNTNAP2
11 autoimmune encephalitis 10.1 LGI1 CNTNAP2
12 dissociative amnesia 10.1 LGI1 CNTNAP2
13 postinfectious encephalitis 10.1 LGI1 CNTNAP2
14 aphasia 10.1
15 seizure disorder 10.1
16 rare epilepsy 10.1
17 la crosse encephalitis 10.1 LGI1 CNTNAP2
18 anterograde amnesia 10.1 LGI1 CNTNAP2
19 mutism 10.1 LGI1 CNTNAP2
20 migraine with or without aura 1 10.1
21 lissencephaly 10.1
22 cerebellar hypoplasia 10.1
23 lissencephaly with cerebellar hypoplasia 10.1
24 lingual-facial-buccal dyskinesia 10.1 LGI1 CNTNAP2
25 acute disseminated encephalomyelitis 10.1 LGI1 CNTNAP2
26 autoimmune disease of peripheral nervous system 10.1 LGI1 CNTNAP2
27 stiff-person syndrome 10.1 LGI1 CNTNAP2
28 epilepsy, familial temporal lobe, 3 10.1 LGI1 DEPDC5
29 limbic encephalitis 10.1 LGI1 CNTNAP2
30 partial motor epilepsy 10.1 LGI1 DEPDC5
31 amnestic disorder 10.1 LGI1 CNTNAP2
32 thymus gland disease 10.1 LGI1 CNTNAP2
33 thymus cancer 10.1 LGI1 CNTNAP2
34 spinal cord disease 10.1 LGI1 CNTNAP2
35 epilepsy, idiopathic generalized 10.1
36 choreatic disease 10.0 LGI1 CNTNAP2
37 episodic ataxia 10.0 LGI1 CNTNAP2
38 benign familial infantile epilepsy 10.0 LGI1 DEPDC5
39 lissencephaly 2 10.0 RELN LOC101927870
40 hyperekplexia 10.0 LGI1 CNTNAP2
41 neuronal migration disorders 10.0 RELN LOC101927870
42 band heterotopia 10.0 RELN DEPDC5
43 autosomal dominant nocturnal frontal lobe epilepsy 10.0 LGI1 DEPDC5
44 epilepsy, myoclonic juvenile 9.9 LGI1 DEPDC5
45 pervasive developmental disorder 9.9 RELN CNTNAP2
46 glioblastoma 9.9
47 rapidly involuting congenital hemangioma 9.9
48 depdc5-related epilepsy 9.9
49 glioma 9.9
50 glial tumor 9.9

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

Human phenotypes related to Autosomal Dominant Epilepsy with Auditory Features:

58 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Excluded (0%)
2 depressivity 58 Very rare (<4-1%)
3 behavioral abnormality 58 Very rare (<4-1%)
4 migraine 58 Very rare (<4-1%)
5 generalized tonic-clonic seizures 58 Very rare (<4-1%)
6 aphasia 58 Frequent (79-30%)
7 brain imaging abnormality 58 Excluded (0%)
8 auditory hallucinations 58 Very frequent (99-80%)
9 focal-onset seizure 58 Very frequent (99-80%)
10 generalized-onset seizure 58 Very rare (<4-1%)
11 visual hallucinations 58 Occasional (29-5%)
12 impulsivity 58 Very rare (<4-1%)
13 abnormal autonomic nervous system physiology 58 Occasional (29-5%)
14 generalized tonic-clonic seizures with focal onset 58 Very rare (<4-1%)
15 eeg with focal epileptiform discharges 58 Very frequent (99-80%)
16 interictal epileptiform activity 58 Frequent (79-30%)
17 focal aware seizure 58 Occasional (29-5%)
18 focal autonomic seizure 58 Occasional (29-5%)
19 nocturnal seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Autosomal Dominant Epilepsy with Auditory Features

Drugs for Autosomal Dominant 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 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:

40
Temporal Lobe, Thymus, Cortex, Pituitary, Brain, Spinal Cord

Publications for Autosomal Dominant Epilepsy with Auditory Features

Articles related to Autosomal Dominant Epilepsy with Auditory Features:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation. 61 6 25
26773249 2016
2
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 61 25 6
26046367 2015
3
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. 61 25 6
22496201 2012
4
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. 61 25 6
14510822 2003
5
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 25 6
18711109 2008
6
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 25 6
17562837 2007
7
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. 25 6
17296837 2007
8
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 25 6
15349881 2004
9
LGI1 mutations in temporal lobe epilepsies. 6 25
15079010 2004
10
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 6 25
15079011 2004
11
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 6 25
12771268 2003
12
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. 6 25
12601709 2003
13
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. 25 6
12205652 2002
14
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. 6 25
11978770 2002
15
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 25 6
11810107 2002
16
Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy. 61 6
25485908 2015
17
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. 61 6
24206907 2013
18
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy. 61 25
29394500 2018
19
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. 25 61
28142128 2017
20
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors. 25 61
27760137 2016
21
Galanin pathogenic mutations in temporal lobe epilepsy. 6
25691535 2015
22
Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras. 25 61
25616465 2015
23
Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees. 25 61
25243798 2014
24
Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene. 25 61
24315022 2014
25
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations. 25 61
23621105 2013
26
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy. 6
21504429 2011
27
Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. 25 61
19780791 2010
28
Abnormal auditory cortex with giant N100m signal in patients with autosomal dominant lateral temporal lobe epilepsy. 61 25
19793676 2009
29
Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings. 25 61
19552651 2009
30
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 61 25
19701204 2009
31
Lateral temporal lobe epilepsies: clinical and genetic features. 25 61
19469848 2009
32
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 25 61
19191227 2009
33
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. 6
18625862 2008
34
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. 61 25
17067999 2006
35
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 6
15857855 2005
36
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. 61 25
15009222 2004
37
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. 25 61
14510823 2003
38
Structure-function studies of MICAL, the unusual multidomain flavoenzyme involved in actin cytoskeleton dynamics. 25
28602956 2017
39
Timing, rates and spectra of human germline mutation. 25
26656846 2016
40
Medical management of epileptic seizures: challenges and solutions. 25
26966367 2016
41
The LGI1-ADAM22 protein complex directs synapse maturation through regulation of PSD-95 function. 25
26178195 2015
42
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures. 25
25234641 2014
43
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 25
24721199 2014
44
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. 25
24579982 2014
45
DEPDC5 does it all: shared genetics for diverse epilepsy syndromes. 25
24753000 2014
46
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 25
23542697 2013
47
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF. 25
22323750 2012
48
Reelin deficiency causes specific defects in the molecular composition of the synapses in the adult brain. 25
21664258 2011
49
Evaluation of depression risk in LGI1 mutation carriers. 25
20659151 2010
50
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. 25
20100225 2010

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 1138)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAL NM_015973.5(GAL):c.116C>A (p.Ala39Glu) SNV Pathogenic 372128 rs1057517661 GRCh37: 11:68453096-68453096
GRCh38: 11:68685628-68685628
2 RELN NM_005045.4(RELN):c.2392C>A (p.His798Asn) SNV Pathogenic 199432 rs794727996 GRCh37: 7:103275945-103275945
GRCh38: 7:103635498-103635498
3 RELN , LOC101927870 NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) SNV Pathogenic 199433 rs794727997 GRCh37: 7:103143605-103143605
GRCh38: 7:103503158-103503158
4 RELN NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) SNV Pathogenic 199434 rs794727998 GRCh37: 7:103276697-103276697
GRCh38: 7:103636250-103636250
5 RELN , LOC101927870 NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) SNV Pathogenic 199435 rs794727999 GRCh37: 7:103131194-103131194
GRCh38: 7:103490747-103490747
6 RELN NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) SNV Pathogenic 208482 rs768119894 GRCh37: 7:103276817-103276817
GRCh38: 7:103636370-103636370
7 RELN NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) SNV Pathogenic 208483 rs797045000 GRCh37: 7:103270558-103270558
GRCh38: 7:103630111-103630111
8 LGI1 NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) SNV Pathogenic 5430 rs28937874 GRCh37: 10:95557034-95557034
GRCh38: 10:93797277-93797277
9 LGI1 LGI1, 1-BP DEL, 835C Deletion Pathogenic 5431 GRCh37:
GRCh38:
10 LGI1 NM_005097.4(LGI1):c.360-3C>A SNV Pathogenic 5432 rs1589762127 GRCh37: 10:95537300-95537300
GRCh38: 10:93777543-93777543
11 LGI1 LGI1, 1320C-T SNV Pathogenic 5434 GRCh37:
GRCh38:
12 LGI1 NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) SNV Pathogenic 5435 rs28939075 GRCh37: 10:95556839-95556839
GRCh38: 10:93797082-93797082
13 LGI1 LGI1, IVS5DS, G-A, +1 SNV Pathogenic 5436 GRCh37:
GRCh38:
14 LGI1 NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) SNV Pathogenic 5437 rs104894167 GRCh37: 10:95552964-95552964
GRCh38: 10:93793207-93793207
15 LGI1 NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) SNV Pathogenic 5439 rs119488100 GRCh37: 10:95537308-95537308
GRCh38: 10:93777551-93777551
16 LGI1 LGI1, 81-KB DEL Deletion Pathogenic 40218 GRCh37:
GRCh38:
17 LGI1 NC_000010.11:g.(93704377_?)_(?_93785620)del Deletion Pathogenic 208479 GRCh37: 10:95464133-95545376
GRCh38: 10:93704377-93785620
18 LGI1 NM_005097.4(LGI1):c.758del (p.Ala253fs) Deletion Pathogenic 208477 rs797044997 GRCh37: 10:95553027-95553027
GRCh38: 10:93793270-93793270
19 LGI1 NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) SNV Pathogenic 208125 rs869025201 GRCh37: 10:95556899-95556899
GRCh38: 10:93797142-93797142
20 LGI1 NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) SNV Pathogenic 408592 rs1060502054 GRCh37: 10:95552957-95552957
GRCh38: 10:93793200-93793200
21 LGI1 NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) SNV Pathogenic 408590 rs1060502053 GRCh37: 10:95557014-95557014
GRCh38: 10:93797257-93797257
22 LGI1 NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) Deletion Pathogenic 464746 rs1554907835 GRCh37: 10:95557323-95557326
GRCh38: 10:93797566-93797569
23 LGI1 NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) SNV Pathogenic 464744 rs1554907787 GRCh37: 10:95557142-95557142
GRCh38: 10:93797385-93797385
24 LGI1 NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) Duplication Pathogenic 533337 rs1554907767 GRCh37: 10:95557042-95557043
GRCh38: 10:93797285-93797286
25 LGI1 NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) SNV Pathogenic 583153 rs1564845068 GRCh37: 10:95537329-95537329
GRCh38: 10:93777572-93777572
26 LGI1 NM_005097.4(LGI1):c.1580_1581del (p.His527fs) Deletion Pathogenic 641538 rs1364913665 GRCh37: 10:95557466-95557467
GRCh38: 10:93797709-93797710
27 overlap with 7 genes NC_000010.11:g.(?_93161309)_(93797823_?)del Deletion Pathogenic 833253 GRCh37: 10:94921066-95557580
GRCh38:
28 LGI1 NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) SNV Pathogenic 5438 rs119488099 GRCh37: 10:95537349-95537349
GRCh38: 10:93777592-93777592
29 RELN NM_005045.4(RELN):c.3485dup (p.Ile1163fs) Duplication Pathogenic 840300 GRCh37: 7:103236956-103236957
GRCh38: 7:103596509-103596510
30 RELN NM_005045.4(RELN):c.3215del (p.Asp1072fs) Deletion Pathogenic 856842 GRCh37: 7:103243869-103243869
GRCh38: 7:103603422-103603422
31 RELN NM_005045.4(RELN):c.2086dup (p.Ser696fs) Duplication Pathogenic 859187 GRCh37: 7:103276898-103276899
GRCh38: 7:103636451-103636452
32 RELN NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) Deletion Pathogenic 955573 GRCh37: 7:103191613-103191614
GRCh38: 7:103551166-103551167
33 LGI1 NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) SNV Pathogenic 5433 rs104894166 GRCh37: 10:95518037-95518037
GRCh38: 10:93758280-93758280
34 LGI1 NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) SNV Pathogenic 208480 rs797044999 GRCh37: 10:95557304-95557304
GRCh38: 10:93797547-93797547
35 LGI1 NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) SNV Pathogenic 208476 rs797044996 GRCh37: 10:95518025-95518025
GRCh38: 10:93758268-93758268
36 LGI1 NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) SNV Pathogenic 208478 rs797044998 GRCh37: 10:95557306-95557306
GRCh38: 10:93797549-93797549
37 LGI1 NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) SNV Pathogenic 208475 rs797044996 GRCh37: 10:95518025-95518025
GRCh38: 10:93758268-93758268
38 RELN NC_000007.14:g.(?_103589576)_(103610827_?)dup Duplication Likely pathogenic 831042 GRCh37: 7:103230023-103251274
GRCh38:
39 LGI1 NM_005097.4(LGI1):c.287+1G>A SNV Likely pathogenic 1028856 GRCh37: 10:95518589-95518589
GRCh38: 10:93758832-93758832
40 LGI1 NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) SNV Likely pathogenic 982819 GRCh37: 10:95517905-95517905
GRCh38: 10:93758148-93758148
41 RELN NM_005045.4(RELN):c.6314del (p.Phe2105fs) Deletion Likely pathogenic 992962 GRCh37: 7:103185780-103185780
GRCh38: 7:103545333-103545333
42 LGI1 NM_005097.4(LGI1):c.215+2T>A SNV Likely pathogenic 996744 GRCh37: 10:95518118-95518118
GRCh38: 10:93758361-93758361
43 RELN , LOC101927870 NM_005045.4(RELN):c.9444-1G>A SNV Likely pathogenic 974846 GRCh37: 7:103131277-103131277
GRCh38: 7:103490830-103490830
44 LGI1 NM_005097.4(LGI1):c.504-1G>T SNV Likely pathogenic 571017 rs1564851314 GRCh37: 10:95552499-95552499
GRCh38: 10:93792742-93792742
45 RELN NM_005045.4(RELN):c.3463dup (p.Leu1155fs) Duplication Likely pathogenic 930436 GRCh37: 7:103236978-103236979
GRCh38: 7:103596531-103596532
46 LGI1 NM_005097.4(LGI1):c.1392G>A (p.Ser464=) SNV Conflicting interpretations of pathogenicity 301660 rs148804268 GRCh37: 10:95557278-95557278
GRCh38: 10:93797521-93797521
47 LGI1 NM_005097.4(LGI1):c.1A>G (p.Met1Val) SNV Conflicting interpretations of pathogenicity 415035 rs202204627 GRCh37: 10:95517902-95517902
GRCh38: 10:93758145-93758145
48 LGI1 NM_005097.4(LGI1):c.717A>C (p.Ile239=) SNV Conflicting interpretations of pathogenicity 138113 rs146425212 GRCh37: 10:95552986-95552986
GRCh38: 10:93793229-93793229
49 LGI1 NM_005097.4(LGI1):c.345A>G (p.Pro115=) SNV Conflicting interpretations of pathogenicity 138112 rs151104648 GRCh37: 10:95537193-95537193
GRCh38: 10:93777436-93777436
50 LGI1 NM_005097.4(LGI1):c.1155A>C (p.Leu385=) SNV Conflicting interpretations of pathogenicity 138115 rs202148793 GRCh37: 10:95557041-95557041
GRCh38: 10:93797284-93797284

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 neuron projection development GO:0031175 9.16 LGI1 CNTNAP2
2 cerebral cortex development GO:0021987 8.96 RELN CNTNAP2
3 learning GO:0007612 8.62 RELN CNTNAP2

Sources for Autosomal Dominant 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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