GEFSP9
MCID: GNR034
MIFTS: 25

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
Gefsp9 56 12 73
Gefs+9 56 12 73
Generalized Epilepsy with Febrile Seizures Plus 9 12 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 9 39
Generalized Epilepsy with Febrile Seizures Plus Type 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, is also known as gefsp9, 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 eye, and related phenotypes are global developmental delay and generalized tonic-clonic seizures

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 generalized tonic-clonic seizures 31 HP:0002069
3 focal impaired awareness seizure 31 HP:0002384
4 absence seizure 31 HP:0002121
5 febrile seizures 31 HP:0002373
6 atonic seizures 31 HP:0010819

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
atonic seizures
absence seizures
seizures, afebrile
complex partial seizures
more

Clinical features from OMIM:

616172

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


absence seizures

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
Eye

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. 56 6
25362483 2014
2
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 56 6
18479394 2008
3
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 56 6
11591834 2001
4
SCN1A Seizure Disorders 6
20301494 2007

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 all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_000016.9:g.(?_31004122)_(31079372_?)deldeletion 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 NM_052874.5(STX1B):c.404del (p.Ala135fs)deletion Pathogenic 657728 16:31008331-31008331 16:30997010-30997010
9 STX1B NC_000016.9:g.(?_31012229)_(31012944_?)deldeletion Pathogenic 661190 16:31012229-31012944 16:31000908-31001623
10 STX1B NM_052874.5(STX1B):c.165dup (p.Gln56fs)duplication Pathogenic 807504 16:31012454-31012455 16:31001133-31001134
11 STX1B NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)deletion Likely pathogenic 803252 16:31004549-31004551 16:30993228-30993230
12 STX1B NM_052874.5(STX1B):c.293G>A (p.Ser98Asn)SNV Likely pathogenic 807503 16:31008884-31008884 16:30997563-30997563
13 STX1B NM_052874.5(STX1B):c.354+1G>ASNV Likely pathogenic 646551 16:31008822-31008822 16:30997501-30997501
14 STX1B NM_052874.5(STX1B):c.823G>A (p.Gly275Arg)SNV Likely pathogenic 656366 16:31004186-31004186 16:30992865-30992865
15 STX1B NM_052874.5(STX1B):c.595A>G (p.Asn199Asp)SNV Uncertain significance 654046 16:31004748-31004748 16:30993427-30993427
16 STX1B NM_052874.5(STX1B):c.533A>G (p.Asp178Gly)SNV Uncertain significance 657951 16:31008008-31008008 16:30996687-30996687
17 STX1B NM_052874.5(STX1B):c.163A>C (p.Lys55Gln)SNV Uncertain significance 639992 16:31012457-31012457 16:31001136-31001136
18 STX1B NM_052874.5(STX1B):c.1A>G (p.Met1Val)SNV Uncertain significance 646154 16:31021717-31021717 16:31010396-31010396
19 STX1B NM_052874.5(STX1B):c.463+5G>CSNV Uncertain significance 645332 16:31008267-31008267 16:30996946-30996946
20 STX1B NM_052874.5(STX1B):c.463+3G>TSNV Uncertain significance 662148 16:31008269-31008269 16:30996948-30996948
21 STX1B NM_052874.5(STX1B):c.463+6T>ASNV Uncertain significance 575759 rs1567378057 16:31008266-31008266 16:30996945-30996945
22 STX1B NM_052874.5(STX1B):c.848G>T (p.Gly283Val)SNV Uncertain significance 653738 16:31004161-31004161 16:30992840-30992840
23 STX1B NM_052874.5(STX1B):c.845T>A (p.Ile282Asn)SNV Uncertain significance 664636 16:31004164-31004164 16:30992843-30992843
24 STX1B NM_052874.5(STX1B):c.841T>C (p.Ser281Pro)SNV Uncertain significance 656407 16:31004168-31004168 16:30992847-30992847
25 STX1B NM_052874.5(STX1B):c.463A>G (p.Thr155Ala)SNV Uncertain significance 542094 rs1327694789 16:31008272-31008272 16:30996951-30996951
26 STX1B NM_052874.5(STX1B):c.96C>A (p.Phe32Leu)SNV Uncertain significance 475344 rs758734411 16:31012859-31012859 16:31001538-31001538
27 STX1B NM_052874.5(STX1B):c.852G>A (p.Gly284=)SNV Likely benign 475343 rs199880822 16:31004157-31004157 16:30992836-30992836
28 STX1B NM_052874.5(STX1B):c.426C>T (p.Asp142=)SNV Likely benign 542097 rs1234767441 16:31008309-31008309 16:30996988-30996988
29 STX1B NM_052874.5(STX1B):c.108G>A (p.Val36=)SNV Likely benign 542101 rs758008534 16:31012512-31012512 16:31001191-31001191
30 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

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 9

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