GEFSP9
MCID: GNR034
MIFTS: 30

Generalized Epilepsy with Febrile Seizures Plus, Type 9 (GEFSP9)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 9

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 9:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 9 57 73 29 6 71
Generalized Epilepsy with Febrile Seizures Plus 9 12 73 15
Gefsp9 57 12 73
Gefs+9 57 12 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 9 39
Generalised Epilepsy with Febrile Seizures Plus Type 9 12
Generalized Epilepsy with Febrile Seizures Plus Type 9 12
Generalised Epilepsy with Febrile Seizures Plus 9 12
Gefs+, Type 9; Gefs+9 57
Gefs+, Type 9 57
Gefs+ Type 9 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in early childhood
seizures tend to remit later in childhood
usually favorable response to treatment


HPO:

31
generalized epilepsy with febrile seizures plus, type 9:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0111301
OMIM® 57 616172
OMIM Phenotypic Series 57 PS604233
UMLS 71 C4015395

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 9

OMIM® : 57 Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. (616172) (Updated 05-Mar-2021)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 9, also known as generalized epilepsy with febrile seizures plus 9, is related to congenital nervous system abnormality and myopathy, congenital, compton-north, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 9 is STX1B (Syntaxin 1B). Related phenotypes are global developmental delay and focal impaired awareness seizure

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in STX1B on chromosome 16p11.2.

UniProtKB/Swiss-Prot : 73 Generalized epilepsy with febrile seizures plus 9: An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities.

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 focal impaired awareness seizure 31 HP:0002384
3 atonic seizure 31 HP:0010819
4 bilateral tonic-clonic seizure 31 HP:0002069
5 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
6 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
seizures, afebrile
complex partial seizures
multifocal discharges seen on eeg
more

Clinical features from OMIM®:

616172 (Updated 05-Mar-2021)

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:


absence seizures

MGI Mouse Phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 CDON CEP152 CNTN1 STX1B TRAPPC9

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus, Type 9 29 STX1B

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:

# Title Authors PMID Year
1
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 6 57
25362483 2014
2
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 57 6
18479394 2008
3
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 6 57
11591834 2001

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 9

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 9:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STX1B NM_052874.5(STX1B):c.166C>T (p.Gln56Ter) SNV Pathogenic 162395 rs724159973 16:31012454-31012454 16:31001133-31001133
2 STX1B NM_052874.5(STX1B):c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu) Insertion Pathogenic 162396 rs1114167275 16:31012486-31012487 16:31001165-31001166
3 STX1B NM_052874.5(STX1B):c.140C>A (p.Ser47Ter) SNV Pathogenic 162397 rs200979563 16:31012480-31012480 16:31001159-31001159
4 STX1B NM_052874.5(STX1B):c.647T>A (p.Val216Glu) SNV Pathogenic 162398 rs724159974 16:31004696-31004696 16:30993375-30993375
5 STX1B NM_052874.5(STX1B):c.676G>C (p.Gly226Arg) SNV Pathogenic 162399 rs727502806 16:31004561-31004561 16:30993240-30993240
6 STX1B NC_000016.10:g.(?_30992801)_(31068051_?)del Deletion Pathogenic 475337 16:31004122-31079372 16:30992801-31068051
7 STX1B NM_052874.5(STX1B):c.35_36dup (p.Asp13fs) Duplication Pathogenic 567167 rs1567379671 16:31012918-31012919 16:31001597-31001598
8 STX1B NC_000016.10:g.(?_31000908)_(31001623_?)del Deletion Pathogenic 661190 16:31012229-31012944 16:31000908-31001623
9 STX1B NM_052874.5(STX1B):c.404del (p.Ala135fs) Deletion Pathogenic 657728 rs1596716888 16:31008331-31008331 16:30997010-30997010
10 STX1B NM_052874.5(STX1B):c.165dup (p.Gln56fs) Duplication Pathogenic 807504 rs1596719437 16:31012454-31012455 16:31001133-31001134
11 STX1B NM_052874.5(STX1B):c.382del (p.Glu128fs) Deletion Pathogenic 813789 16:31008353-31008353 16:30997032-30997032
12 STX1B NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs) Indel Pathogenic 968105 16:31012272-31012277 16:31000951-31000956
13 STX1B NM_052874.5(STX1B):c.676-2A>G SNV Likely pathogenic 963748 16:31004563-31004563 16:30993242-30993242
14 STX1B NM_052874.5(STX1B):c.281-41_294del Deletion Likely pathogenic 960621 16:31008883-31008937 16:30997562-30997616
15 STX1B NM_052874.5(STX1B):c.852dup (p.Thr285fs) Duplication Likely pathogenic 961584 16:31004156-31004157 16:30992835-30992836
16 STX1B NM_052874.5(STX1B):c.205+2_205+3del Deletion Likely pathogenic 961985 16:31012412-31012413 16:31001091-31001092
17 STX1B NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) Deletion Likely pathogenic 803252 rs1596714579 16:31004549-31004551 16:30993228-30993230
18 STX1B NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) SNV Likely pathogenic 807503 rs781210585 16:31008884-31008884 16:30997563-30997563
19 STX1B NM_052874.5(STX1B):c.106-1G>C SNV Likely pathogenic 838165 16:31012515-31012515 16:31001194-31001194
20 STX1B NM_052874.5(STX1B):c.463+1G>A SNV Likely pathogenic 852835 16:31008271-31008271 16:30996950-30996950
21 STX1B NM_052874.5(STX1B):c.354+1G>A SNV Likely pathogenic 646551 rs1596717264 16:31008822-31008822 16:30997501-30997501
22 STX1B NM_052874.5(STX1B):c.823G>A (p.Gly275Arg) SNV Likely pathogenic 656366 rs1596714308 16:31004186-31004186 16:30992865-30992865
23 STX1B NM_052874.5(STX1B):c.841T>C (p.Ser281Pro) SNV Uncertain significance 656407 rs1596714288 16:31004168-31004168 16:30992847-30992847
24 STX1B NM_052874.5(STX1B):c.848G>T (p.Gly283Val) SNV Uncertain significance 653738 rs773649592 16:31004161-31004161 16:30992840-30992840
25 STX1B NM_052874.5(STX1B):c.595A>G (p.Asn199Asp) SNV Uncertain significance 654046 rs1596714723 16:31004748-31004748 16:30993427-30993427
26 STX1B NM_052874.5(STX1B):c.163A>C (p.Lys55Gln) SNV Uncertain significance 639992 rs1463703956 16:31012457-31012457 16:31001136-31001136
27 STX1B NM_052874.5(STX1B):c.463+5G>C SNV Uncertain significance 645332 rs1596716834 16:31008267-31008267 16:30996946-30996946
28 STX1B NM_052874.5(STX1B):c.1A>G (p.Met1Val) SNV Uncertain significance 646154 rs1596723978 16:31021717-31021717 16:31010396-31010396
29 STX1B NM_052874.5(STX1B):c.533A>G (p.Asp178Gly) SNV Uncertain significance 657951 rs1596716568 16:31008008-31008008 16:30996687-30996687
30 STX1B NM_052874.5(STX1B):c.463+3G>T SNV Uncertain significance 662148 rs994660213 16:31008269-31008269 16:30996948-30996948
31 STX1B NM_052874.5(STX1B):c.845T>A (p.Ile282Asn) SNV Uncertain significance 664636 rs763428520 16:31004164-31004164 16:30992843-30992843
32 STX1B NM_052874.5(STX1B):c.96C>A (p.Phe32Leu) SNV Uncertain significance 475344 rs758734411 16:31012859-31012859 16:31001538-31001538
33 STX1B NM_052874.5(STX1B):c.463A>G (p.Thr155Ala) SNV Uncertain significance 542094 rs1327694789 16:31008272-31008272 16:30996951-30996951
34 STX1B NM_052874.5(STX1B):c.691C>T (p.Arg231Cys) SNV Uncertain significance 853246 16:31004546-31004546 16:30993225-30993225
35 STX1B NM_052874.5(STX1B):c.205+6T>C SNV Uncertain significance 858032 16:31012409-31012409 16:31001088-31001088
36 STX1B NM_052874.5(STX1B):c.1A>T (p.Met1Leu) SNV Uncertain significance 859684 16:31021717-31021717 16:31010396-31010396
37 STX1B NM_052874.5(STX1B):c.463+4C>A SNV Uncertain significance 860755 16:31008268-31008268 16:30996947-30996947
38 STX1B NM_052874.5(STX1B):c.785G>A (p.Arg262Lys) SNV Uncertain significance 862348 16:31004452-31004452 16:30993131-30993131
39 STX1B NM_052874.5(STX1B):c.734G>A (p.Arg245Gln) SNV Uncertain significance 862668 16:31004503-31004503 16:30993182-30993182
40 STX1B NM_052874.5(STX1B):c.26G>A (p.Arg9Gln) SNV Uncertain significance 862724 16:31021692-31021692 16:31010371-31010371
41 STX1B NM_052874.5(STX1B):c.62T>C (p.Val21Ala) SNV Uncertain significance 842774 16:31012893-31012893 16:31001572-31001572
42 STX1B NM_052874.5(STX1B):c.833T>C (p.Leu278Ser) SNV Uncertain significance 849864 16:31004176-31004176 16:30992855-30992855
43 STX1B NM_052874.5(STX1B):c.637G>A (p.Asp213Asn) SNV Uncertain significance 852258 16:31004706-31004706 16:30993385-30993385
44 STX1B NM_052874.5(STX1B):c.187G>T (p.Ala63Ser) SNV Uncertain significance 852366 16:31012433-31012433 16:31001112-31001112
45 STX1B NM_052874.5(STX1B):c.587C>T (p.Thr196Met) SNV Uncertain significance 834995 16:31004756-31004756 16:30993435-30993435
46 STX1B NM_052874.5(STX1B):c.852del (p.Thr285fs) Deletion Uncertain significance 963594 16:31004157-31004157 16:30992836-30992836
47 STX1B NM_052874.5(STX1B):c.538-8C>T SNV Uncertain significance 930548 16:31004813-31004813 16:30993492-30993492
48 STX1B NM_052874.5(STX1B):c.67G>A (p.Val23Met) SNV Uncertain significance 933466 16:31012888-31012888 16:31001567-31001567
49 STX1B NM_052874.5(STX1B):c.344G>C (p.Arg115Pro) SNV Uncertain significance 945499 16:31008833-31008833 16:30997512-30997512
50 STX1B NM_052874.5(STX1B):c.215A>G (p.Gln72Arg) SNV Uncertain significance 377128 rs748657799 16:31012314-31012314 16:31000993-31000993

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 9:

73
# Symbol AA change Variation ID SNP ID
1 STX1B p.Val216Glu VAR_072675 rs724159974
2 STX1B p.Gly226Arg VAR_072676 rs727502806

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 9.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 9

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 8.62 TRAPPC9 CDON

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 9

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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