GEFSP9
MCID: GNR034
MIFTS: 24

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

Categories: 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 74 29 6 72
Gefsp9 57 12 74
Gefs+9 57 12 74
Generalized Epilepsy with Febrile Seizures Plus 9 12 74
Epilepsy, Generalized, with Febrile Seizures Plus, Type 9 40
Generalized Epilepsy with Febrile Seizures Plus Type 9 12
Gefs+, Type 9; Gefs+9 57
Gefs+, Type 9 57
Gefs+ Type 9 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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
UMLS 72 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)

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). 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 : 74 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 generalized tonic-clonic seizures 32 HP:0002069
3 focal impaired awareness seizure 32 HP:0002384
4 absence seizure 32 HP:0002121
5 febrile seizures 32 HP:0002373
6 atonic seizures 32 HP:0010819

Symptoms via clinical synopsis from OMIM:

57
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

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. 8 71
25362483 2014
2
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 8 71
18479394 2008
3
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 8 71
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 all 40)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STX1B NC_000016.9: g.(?_31004122)_(31079372_?)del deletion Pathogenic 16:31004122-31079372 16:30992801-31068051
2 STX1B NM_052874.5(STX1B): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic rs724159973 16:31012454-31012454 16:31001133-31001133
3 STX1B NM_052874.5(STX1B): c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu) insertion Pathogenic rs1114167275 16:31012486-31012487 16:31001165-31001166
4 STX1B NM_052874.5(STX1B): c.140C> A (p.Ser47Ter) single nucleotide variant Pathogenic rs200979563 16:31012480-31012480 16:31001159-31001159
5 STX1B NM_052874.5(STX1B): c.647T> A (p.Val216Glu) single nucleotide variant Pathogenic rs724159974 16:31004696-31004696 16:30993375-30993375
6 STX1B NM_052874.5(STX1B): c.676G> C (p.Gly226Arg) single nucleotide variant Pathogenic rs727502806 16:31004561-31004561 16:30993240-30993240
7 STX1B NM_052874.5(STX1B): c.35_36dup (p.Asp13fs) duplication Pathogenic 16:31012919-31012920 16:31001598-31001599
8 STX1B NM_052874.5(STX1B): c.404del (p.Ala135fs) deletion Pathogenic 16:31008331-31008331 16:30997010-30997010
9 STX1B NC_000016.9: g.(?_31012229)_(31012944_?)del deletion Pathogenic 16:31012229-31012944 16:31000908-31001623
10 STX1B NM_052874.5(STX1B): c.354+1G> A single nucleotide variant Likely pathogenic 16:31008822-31008822 16:30997501-30997501
11 STX1B NM_052874.5(STX1B): c.823G> A (p.Gly275Arg) single nucleotide variant Likely pathogenic 16:31004186-31004186 16:30992865-30992865
12 STX1B NM_052874.5(STX1B): c.595A> G (p.Asn199Asp) single nucleotide variant Uncertain significance 16:31004748-31004748 16:30993427-30993427
13 STX1B NM_052874.5(STX1B): c.533A> G (p.Asp178Gly) single nucleotide variant Uncertain significance 16:31008008-31008008 16:30996687-30996687
14 STX1B NM_052874.5(STX1B): c.828G> A (p.Val276=) single nucleotide variant Uncertain significance 16:31004181-31004181 16:30992860-30992860
15 STX1B NM_052874.5(STX1B): c.782G> A (p.Arg261Gln) single nucleotide variant Uncertain significance 16:31004455-31004455 16:30993134-30993134
16 STX1B NM_052874.5(STX1B): c.848G> T (p.Gly283Val) single nucleotide variant Uncertain significance 16:31004161-31004161 16:30992840-30992840
17 STX1B NM_052874.5(STX1B): c.845T> A (p.Ile282Asn) single nucleotide variant Uncertain significance 16:31004164-31004164 16:30992843-30992843
18 STX1B NM_052874.5(STX1B): c.841T> C (p.Ser281Pro) single nucleotide variant Uncertain significance 16:31004168-31004168 16:30992847-30992847
19 STX1B NM_052874.5(STX1B): c.463+5G> C single nucleotide variant Uncertain significance 16:31008267-31008267 16:30996946-30996946
20 STX1B NM_052874.5(STX1B): c.463+3G> T single nucleotide variant Uncertain significance 16:31008269-31008269 16:30996948-30996948
21 STX1B NM_052874.5(STX1B): c.163A> C (p.Lys55Gln) single nucleotide variant Uncertain significance 16:31012457-31012457 16:31001136-31001136
22 STX1B NM_052874.5(STX1B): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance 16:31021717-31021717 16:31010396-31010396
23 STX1B NM_052874.5(STX1B): c.845T> C (p.Ile282Thr) single nucleotide variant Uncertain significance rs763428520 16:31004164-31004164 16:30992843-30992843
24 STX1B NM_052874.5(STX1B): c.463+6T> A single nucleotide variant Uncertain significance 16:31008266-31008266 16:30996945-30996945
25 STX1B NM_052874.5(STX1B): c.463A> G (p.Thr155Ala) single nucleotide variant Uncertain significance rs1327694789 16:31008272-31008272 16:30996951-30996951
26 STX1B NM_052874.5(STX1B): c.96C> A (p.Phe32Leu) single nucleotide variant Uncertain significance rs758734411 16:31012859-31012859 16:31001538-31001538
27 STX1B NM_052874.5(STX1B): c.852G> A (p.Gly284=) single nucleotide variant Likely benign rs199880822 16:31004157-31004157 16:30992836-30992836
28 STX1B NM_052874.5(STX1B): c.786+6C> T single nucleotide variant Likely benign rs750134526 16:31004445-31004445 16:30993124-30993124
29 STX1B NM_052874.5(STX1B): c.75G> A (p.Arg25=) single nucleotide variant Likely benign rs747223515 16:31012880-31012880 16:31001559-31001559
30 STX1B NM_052874.5(STX1B): c.105+10C> T single nucleotide variant Likely benign rs370337339 16:31012840-31012840 16:31001519-31001519
31 STX1B NM_052874.5(STX1B): c.33G> A (p.Ala11=) single nucleotide variant Likely benign rs774354732 16:31012922-31012922 16:31001601-31001601
32 STX1B NM_052874.5(STX1B): c.426C> T (p.Asp142=) single nucleotide variant Likely benign rs1234767441 16:31008309-31008309 16:30996988-30996988
33 STX1B NM_052874.5(STX1B): c.108G> A (p.Val36=) single nucleotide variant Likely benign rs758008534 16:31012512-31012512 16:31001191-31001191
34 STX1B NM_052874.5(STX1B): c.60G> T (p.Val20=) single nucleotide variant Likely benign rs772989451 16:31012895-31012895 16:31001574-31001574
35 STX1B NM_052874.5(STX1B): c.355-5C> T single nucleotide variant Likely benign rs1410123185 16:31008385-31008385 16:30997064-30997064
36 STX1B NM_052874.5(STX1B): c.837G> A (p.Ala279=) single nucleotide variant Benign/Likely benign rs150313069 16:31004172-31004172 16:30992851-30992851
37 STX1B NM_052874.5(STX1B): c.538-5C> G single nucleotide variant Benign/Likely benign rs145815305 16:31004810-31004810 16:30993489-30993489
38 STX1B NM_052874.5(STX1B): c.513G> C (p.Gly171=) single nucleotide variant Benign rs143402089 16:31008028-31008028 16:30996707-30996707
39 STX1B NM_052874.5(STX1B): c.609G> A (p.Lys203=) single nucleotide variant Benign rs61733980 16:31004734-31004734 16:30993413-30993413
40 STX1B NM_052874.5(STX1B): c.355-8C> G single nucleotide variant Benign rs772649813 16:31008388-31008388 16:30997067-30997067

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

74
# 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

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Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 9

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

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