EPILX
MCID: EPL021
MIFTS: 25

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (EPILX)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, X-Linked, with Variable Learning Disabilities and...

MalaCards integrated aliases for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

Name: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 57 29 13 6 44 39
X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome 12 58
Epilepsy X-Linked, with Variable Learning Disabilities and Behavior Disorders 72
X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders 12
Epilx 57
Xelbd 72

Characteristics:

Orphanet epidemiological data:

58
x-linked epilepsy-learning disabilities-behavior disorders syndrome
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive
x-linked dominant

Miscellaneous:
affected patients have various combinations of the main clinical features
carrier females may be affected


HPO:

31
epilepsy, x-linked, with variable learning disabilities and behavior disorders:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0112122
OMIM® 57 300491
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1845343
Orphanet 58 ORPHA85294
MedGen 41 C1845343
UMLS 70 C1845343

Summaries for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Disease Ontology : 12 An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has material basis in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2.

MalaCards based summary : Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders, is also known as x-linked epilepsy-learning disabilities-behavior disorders syndrome. An important gene associated with Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders is SYN1 (Synapsin I). Related phenotypes are macrocephaly and specific learning disability

UniProtKB/Swiss-Prot : 72 Epilepsy X-linked, with variable learning disabilities and behavior disorders: A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior.

More information from OMIM: 300491

Related Diseases for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Symptoms & Phenotypes for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Human phenotypes related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000256
2 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
3 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
4 seizure 31 hallmark (90%) HP:0001250
5 seizures 58 Very frequent (99-80%)
6 autistic behavior 31 HP:0000729
7 focal-onset seizure 31 HP:0007359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
partial epilepsy

Head And Neck Head:
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
learning difficulties
autism spectrum disorders

Clinical features from OMIM®:

300491 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Search Clinical Trials , NIH Clinical Center for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders

Cochrane evidence based reviews: epilepsy, x-linked, with variable learning disabilities and behavior disorders

Genetic Tests for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Genetic tests related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

# Genetic test Affiliating Genes
1 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 29 SYN1

Anatomical Context for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Publications for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Articles related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

# Title Authors PMID Year
1
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 57 6
21441247 2011
2
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 57 6
14985377 2004
3
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. 6
31969655 2020
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
5
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. 6
23406870 2013

Variations for Epilepsy, X-Linked, with Variable Learning Disabilities and...

ClinVar genetic disease variations for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYN1 NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) SNV Pathogenic 9867 rs137852560 GRCh37: X:47435621-47435621
GRCh38: X:47576222-47576222
2 SYN1 NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) SNV Pathogenic 41888 rs397514679 GRCh37: X:47433720-47433720
GRCh38: X:47574321-47574321
3 SYN1 NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) SNV Pathogenic 650148 rs1603050544 GRCh37: X:47433867-47433867
GRCh38: X:47574468-47574468
4 SYN1 NM_006950.3(SYN1):c.1001del (p.Asn334fs) Deletion Pathogenic 827798 rs1603051674 GRCh37: X:47435785-47435785
GRCh38: X:47576386-47576386
5 SYN1 NM_006950.3(SYN1):c.248_264del (p.Ala83fs) Deletion Pathogenic 954957 GRCh37: X:47478864-47478880
GRCh38: X:47619465-47619481
6 SYN1 NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) SNV Likely pathogenic 975472 GRCh37: X:47464692-47464692
GRCh38: X:47605293-47605293
7 SYN1 NM_006950.3(SYN1):c.2028C>T (p.Ala676=) SNV Likely pathogenic 862372 GRCh37: X:47432353-47432353
GRCh38: X:47572954-47572954
8 SYN1 NM_006950.3(SYN1):c.528-2A>T SNV Likely pathogenic 465099 rs1556860663 GRCh37: X:47464780-47464780
GRCh38: X:47605381-47605381
9 SYN1 NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) SNV Likely pathogenic 933392 GRCh37: X:47434574-47434574
GRCh38: X:47575175-47575175
10 SYN1 NM_006950.3(SYN1):c.378-1G>A SNV Likely pathogenic 936182 GRCh37: X:47466598-47466598
GRCh38: X:47607199-47607199
11 SYN1 NM_006950.3(SYN1):c.314del (p.Gly105fs) Deletion Likely pathogenic 812162 rs1603078587 GRCh37: X:47478814-47478814
GRCh38: X:47619415-47619415
12 SYN1 NM_006950.3(SYN1):c.1439dup (p.Leu481fs) Duplication Likely pathogenic 496675 rs1556857481 GRCh37: X:47433943-47433944
GRCh38: X:47574544-47574545
13 SYN1 NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) SNV Conflicting interpretations of pathogenicity 207470 rs41298474 GRCh37: X:47434535-47434535
GRCh38: X:47575136-47575136
14 SYN1 NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) SNV Uncertain significance 495265 rs1556861783 GRCh37: X:47478752-47478752
GRCh38: X:47619353-47619353
15 SYN1 NM_006950.3(SYN1):c.435+10G>A SNV Uncertain significance 930238 GRCh37: X:47466530-47466530
GRCh38: X:47607131-47607131
16 SYN1 NM_006950.3(SYN1):c.1982+10C>A SNV Uncertain significance 931353 GRCh37: X:47433391-47433391
GRCh38: X:47573992-47573992
17 SYN1 NM_006950.3(SYN1):c.685-3T>C SNV Uncertain significance 970315 GRCh37: X:47464469-47464469
GRCh38: X:47605070-47605070
18 SYN1 NM_006950.3(SYN1):c.883G>A (p.Val295Met) SNV Uncertain significance 426694 rs1085307749 GRCh37: X:47435994-47435994
GRCh38: X:47576595-47576595
19 SYN1 NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) SNV Uncertain significance 207466 rs769458536 GRCh37: X:47466345-47466345
GRCh38: X:47606946-47606946
20 SYN1 NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) SNV Uncertain significance 207476 rs796053397 GRCh37: X:47433440-47433440
GRCh38: X:47574041-47574041
21 SYN1 NM_006950.3(SYN1):c.986C>T (p.Thr329Met) SNV Uncertain significance 932913 GRCh37: X:47435800-47435800
GRCh38: X:47576401-47576401
22 SYN1 NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) SNV Uncertain significance 465098 rs765486966 GRCh37: X:47466398-47466398
GRCh38: X:47606999-47606999
23 SYN1 NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp) SNV Uncertain significance 853082 GRCh37: X:47434110-47434110
GRCh38: X:47574711-47574711
24 SYN1 NM_006950.3(SYN1):c.319G>A (p.Gly107Ser) SNV Uncertain significance 857385 GRCh37: X:47478809-47478809
GRCh38: X:47619410-47619410
25 SYN1 NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly) SNV Uncertain significance 946167 GRCh37: X:47434574-47434574
GRCh38: X:47575175-47575175
26 SYN1 NM_006950.3(SYN1):c.360C>A (p.Asp120Glu) SNV Uncertain significance 465097 rs372165835 GRCh37: X:47478768-47478768
GRCh38: X:47619369-47619369
27 SYN1 NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) SNV Uncertain significance 212332 rs775109362 GRCh37: X:47466365-47466365
GRCh38: X:47606966-47606966
28 SYN1 NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) SNV Uncertain significance 856395 GRCh37: X:47435538-47435538
GRCh38: X:47576139-47576139
29 SYN1 NM_006950.3(SYN1):c.79C>T (p.Arg27Cys) SNV Uncertain significance 935450 GRCh37: X:47479049-47479049
GRCh38: X:47619650-47619650
30 SYN1 NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe) Indel Uncertain significance 944089 GRCh37: X:47433734-47433735
GRCh38: X:47574335-47574336
31 SYN1 NM_006950.3(SYN1):c.310G>A (p.Gly104Arg) SNV Uncertain significance 951750 GRCh37: X:47478818-47478818
GRCh38: X:47619419-47619419
32 SYN1 NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) SNV Uncertain significance 41889 rs397514680 GRCh37: X:47433735-47433735
GRCh38: X:47574336-47574336
33 SYN1 NM_006950.3(SYN1):c.860A>C (p.Asp287Ala) SNV Uncertain significance 1051531 GRCh37: X:47436017-47436017
GRCh38: X:47576618-47576618
34 SYN1 NM_006950.3(SYN1):c.430G>A (p.Glu144Lys) SNV Uncertain significance 449262 rs771860069 GRCh37: X:47466545-47466545
GRCh38: X:47607146-47607146
35 SYN1 NM_006950.3(SYN1):c.1982+8G>T SNV Uncertain significance 1055737 GRCh37: X:47433393-47433393
GRCh38: X:47573994-47573994
36 SYN1 NM_006950.3(SYN1):c.1055+5G>A SNV Uncertain significance 1056184 GRCh37: X:47435726-47435726
GRCh38: X:47576327-47576327
37 SYN1 NM_006950.3(SYN1):c.101C>T (p.Pro34Leu) SNV Uncertain significance 1061687 GRCh37: X:47479027-47479027
GRCh38: X:47619628-47619628
38 SYN1 NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) SNV Uncertain significance 465087 rs772668988 GRCh37: X:47434634-47434634
GRCh38: X:47575235-47575235
39 SYN1 NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro) SNV Uncertain significance 465089 rs748323076 GRCh37: X:47434111-47434111
GRCh38: X:47574712-47574712
40 SYN1 NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) SNV Uncertain significance 465088 rs895517774 GRCh37: X:47434170-47434170
GRCh38: X:47574771-47574771
41 SYN1 NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) SNV Uncertain significance 465096 rs1556861785 GRCh37: X:47478778-47478778
GRCh38: X:47619379-47619379
42 SYN1 NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu) SNV Uncertain significance 658864 rs1603050776 GRCh37: X:47434161-47434161
GRCh38: X:47574762-47574762
43 SYN1 NC_000023.10:g.(?_47464357)_(47479147_?)dup Duplication Uncertain significance 533668 GRCh37: X:47464357-47479147
GRCh38: X:47604958-47619748
44 SYN1 and overlap with 3 gene(s) NC_000023.10:g.(?_47432243)_(47479147_?)dup Duplication Uncertain significance 533669 GRCh37: X:47432243-47479147
GRCh38: X:47572844-47619748
45 SYN1 NM_006950.3(SYN1):c.213G>A (p.Ser71=) SNV Uncertain significance 566777 rs774873821 GRCh37: X:47478915-47478915
GRCh38: X:47619516-47619516
46 SYN1 NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu) SNV Uncertain significance 569374 rs913197225 GRCh37: X:47433716-47433716
GRCh38: X:47574317-47574317
47 SYN1 NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) SNV Uncertain significance 571077 rs1371497364 GRCh37: X:47434117-47434117
GRCh38: X:47574718-47574718
48 SYN1 NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) SNV Uncertain significance 573093 rs1198466921 GRCh37: X:47433890-47433890
GRCh38: X:47574491-47574491
49 SYN1 NM_006950.3(SYN1):c.581G>A (p.Arg194His) SNV Uncertain significance 583069 rs373152478 GRCh37: X:47464725-47464725
GRCh38: X:47605326-47605326
50 SYN1 and overlap with 3 gene(s) NC_000023.11:g.(?_47572844)_(47605399_?)del Deletion Uncertain significance 583809 GRCh37: X:47432243-47464798
GRCh38: X:47572844-47605399

Expression for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Search GEO for disease gene expression data for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders.

Pathways for Epilepsy, X-Linked, with Variable Learning Disabilities and...

GO Terms for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Sources for Epilepsy, X-Linked, with Variable Learning Disabilities and...

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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