GEFSP9
MCID: GNR034
MIFTS: 32

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 56 73 29 6 71
Generalized Epilepsy with Febrile Seizures Plus 9 12 73 15
Gefsp9 56 12 73
Gefs+9 56 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 56
Gefs+, Type 9 56
Gefs+ Type 9 73

Characteristics:

OMIM:

56
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 56 616172
OMIM Phenotypic Series 56 PS604233
UMLS 71 C4015395

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 9

OMIM : 56 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)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 9, also known as generalized epilepsy with febrile seizures plus 9, is related to autosomal recessive non-syndromic intellectual disability 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). Affiliated tissues include temporal lobe, and 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:

56
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

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:

45
# 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

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 9:

40
Temporal Lobe

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 56
25362483 2014
2
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 6 56
18479394 2008
3
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 56 6
11591834 2001
4
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6
20437590 2010
5
SCN1A Seizure Disorders 6
20301494 2007
6
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
7
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 6
16205844 2005
8
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 6
15710580 2005

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 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STX1B NC_000016.10:g.(?_30992801)_(31068051_?)deldeletion Pathogenic 475337 16:31004122-31079372 16:30992801-31068051
2 STX1B NM_052874.5(STX1B):c.35_36dup (p.Asp13fs)duplication Pathogenic 567167 rs1567379671 16:31012918-31012919 16:31001597-31001598
3 STX1B NM_052874.5(STX1B):c.404del (p.Ala135fs)deletion Pathogenic 657728 16:31008331-31008331 16:30997010-30997010
4 STX1B NM_052874.5(STX1B):c.165dup (p.Gln56fs)duplication Pathogenic 807504 16:31012454-31012455 16:31001133-31001134
5 STX1B NM_052874.5(STX1B):c.382del (p.Glu128fs)deletion Pathogenic 813789 16:31008353-31008353 16:30997032-30997032
6 STX1B NC_000016.10:g.(?_31000908)_(31001623_?)deldeletion Pathogenic 661190 16:31012229-31012944 16:31000908-31001623
7 STX1B NM_052874.5(STX1B):c.166C>T (p.Gln56Ter)SNV Pathogenic 162395 rs724159973 16:31012454-31012454 16:31001133-31001133
8 STX1B NM_052874.5(STX1B):c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu)insertion Pathogenic 162396 rs1114167275 16:31012486-31012487 16:31001165-31001166
9 STX1B NM_052874.5(STX1B):c.140C>A (p.Ser47Ter)SNV Pathogenic 162397 rs200979563 16:31012480-31012480 16:31001159-31001159
10 STX1B NM_052874.5(STX1B):c.647T>A (p.Val216Glu)SNV Pathogenic 162398 rs724159974 16:31004696-31004696 16:30993375-30993375
11 STX1B NM_052874.5(STX1B):c.676G>C (p.Gly226Arg)SNV Pathogenic 162399 rs727502806 16:31004561-31004561 16:30993240-30993240
12 STX1B NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)deletion Likely pathogenic 803252 16:31004549-31004551 16:30993228-30993230
13 STX1B NM_052874.5(STX1B):c.293G>A (p.Ser98Asn)SNV Likely pathogenic 807503 16:31008884-31008884 16:30997563-30997563
14 STX1B NM_052874.5(STX1B):c.463+1G>ASNV Likely pathogenic 852835 16:31008271-31008271 16:30996950-30996950
15 STX1B NM_052874.5(STX1B):c.106-1G>CSNV Likely pathogenic 838165 16:31012515-31012515 16:31001194-31001194
16 STX1B NM_052874.5(STX1B):c.823G>A (p.Gly275Arg)SNV Likely pathogenic 656366 16:31004186-31004186 16:30992865-30992865
17 STX1B NM_052874.5(STX1B):c.354+1G>ASNV Likely pathogenic 646551 16:31008822-31008822 16:30997501-30997501
18 STX1B NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)SNV Conflicting interpretations of pathogenicity 265262 rs763428520 16:31004164-31004164 16:30992843-30992843
19 STX1B NM_052874.5(STX1B):c.463+3G>TSNV Uncertain significance 662148 16:31008269-31008269 16:30996948-30996948
20 STX1B NM_052874.5(STX1B):c.833T>C (p.Leu278Ser)SNV Uncertain significance 849864 16:31004176-31004176 16:30992855-30992855
21 STX1B NM_052874.5(STX1B):c.785G>A (p.Arg262Lys)SNV Uncertain significance 862348 16:31004452-31004452 16:30993131-30993131
22 STX1B NM_052874.5(STX1B):c.734G>A (p.Arg245Gln)SNV Uncertain significance 862668 16:31004503-31004503 16:30993182-30993182
23 STX1B NM_052874.5(STX1B):c.691C>T (p.Arg231Cys)SNV Uncertain significance 853246 16:31004546-31004546 16:30993225-30993225
24 STX1B NM_052874.5(STX1B):c.637G>A (p.Asp213Asn)SNV Uncertain significance 852258 16:31004706-31004706 16:30993385-30993385
25 STX1B NM_052874.5(STX1B):c.587C>T (p.Thr196Met)SNV Uncertain significance 834995 16:31004756-31004756 16:30993435-30993435
26 STX1B NM_052874.5(STX1B):c.187G>T (p.Ala63Ser)SNV Uncertain significance 852366 16:31012433-31012433 16:31001112-31001112
27 STX1B NM_052874.5(STX1B):c.62T>C (p.Val21Ala)SNV Uncertain significance 842774 16:31012893-31012893 16:31001572-31001572
28 STX1B NM_052874.5(STX1B):c.26G>A (p.Arg9Gln)SNV Uncertain significance 862724 16:31021692-31021692 16:31010371-31010371
29 STX1B NM_052874.5(STX1B):c.1A>T (p.Met1Leu)SNV Uncertain significance 859684 16:31021717-31021717 16:31010396-31010396
30 STX1B NM_052874.5(STX1B):c.463+4C>ASNV Uncertain significance 860755 16:31008268-31008268 16:30996947-30996947
31 STX1B NM_052874.5(STX1B):c.205+6T>CSNV Uncertain significance 858032 16:31012409-31012409 16:31001088-31001088
32 STX1B NM_052874.5(STX1B):c.463+5G>CSNV Uncertain significance 645332 16:31008267-31008267 16:30996946-30996946
33 STX1B NM_052874.5(STX1B):c.595A>G (p.Asn199Asp)SNV Uncertain significance 654046 16:31004748-31004748 16:30993427-30993427
34 STX1B NM_052874.5(STX1B):c.533A>G (p.Asp178Gly)SNV Uncertain significance 657951 16:31008008-31008008 16:30996687-30996687
35 STX1B NM_052874.5(STX1B):c.163A>C (p.Lys55Gln)SNV Uncertain significance 639992 16:31012457-31012457 16:31001136-31001136
36 STX1B NM_052874.5(STX1B):c.1A>G (p.Met1Val)SNV Uncertain significance 646154 16:31021717-31021717 16:31010396-31010396
37 STX1B NM_052874.5(STX1B):c.848G>T (p.Gly283Val)SNV Uncertain significance 653738 16:31004161-31004161 16:30992840-30992840
38 STX1B NM_052874.5(STX1B):c.845T>A (p.Ile282Asn)SNV Uncertain significance 664636 16:31004164-31004164 16:30992843-30992843
39 STX1B NM_052874.5(STX1B):c.841T>C (p.Ser281Pro)SNV Uncertain significance 656407 16:31004168-31004168 16:30992847-30992847
40 STX1B NM_052874.5(STX1B):c.463A>G (p.Thr155Ala)SNV Uncertain significance 542094 rs1327694789 16:31008272-31008272 16:30996951-30996951
41 STX1B NM_052874.5(STX1B):c.96C>A (p.Phe32Leu)SNV Uncertain significance 475344 rs758734411 16:31012859-31012859 16:31001538-31001538
42 STX1B NM_052874.5(STX1B):c.852G>A (p.Gly284=)SNV Likely benign 475343 rs199880822 16:31004157-31004157 16:30992836-30992836
43 STX1B NM_052874.5(STX1B):c.786+6C>TSNV Likely benign 475342 rs750134526 16:31004445-31004445 16:30993124-30993124
44 STX1B NM_052874.5(STX1B):c.75G>A (p.Arg25=)SNV Likely benign 475341 rs747223515 16:31012880-31012880 16:31001559-31001559
45 STX1B NM_052874.5(STX1B):c.33G>A (p.Ala11=)SNV Likely benign 542102 rs774354732 16:31012922-31012922 16:31001601-31001601
46 STX1B NM_052874.5(STX1B):c.426C>T (p.Asp142=)SNV Likely benign 542097 rs1234767441 16:31008309-31008309 16:30996988-30996988
47 STX1B NM_052874.5(STX1B):c.108G>A (p.Val36=)SNV Likely benign 542101 rs758008534 16:31012512-31012512 16:31001191-31001191
48 STX1B NM_052874.5(STX1B):c.60G>T (p.Val20=)SNV Likely benign 542100 rs772989451 16:31012895-31012895 16:31001574-31001574
49 STX1B NM_052874.5(STX1B):c.782G>A (p.Arg261Gln)SNV Likely benign 571082 rs779750229 16:31004455-31004455 16:30993134-30993134
50 STX1B NM_052874.5(STX1B):c.355-5C>TSNV Likely benign 542099 rs1410123185 16:31008385-31008385 16:30997064-30997064

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

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