GEFSP9
MCID: GNR034
MIFTS: 20

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 58 76 30 6 74
Gefsp9 58 76
Gefs+9 58 76
Epilepsy, Generalized, with Febrile Seizures Plus, Type 9 41
Generalized Epilepsy with Febrile Seizures Plus 9 76
Gefs+, Type 9; Gefs+9 58
Gefs+, Type 9 58
Gefs+ Type 9 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
generalized epilepsy with febrile seizures plus, type 9:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 9

OMIM : 58 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

UniProtKB/Swiss-Prot : 76 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 generalized tonic-clonic seizures 33 HP:0002069
3 febrile seizures 33 HP:0002373
4 atonic seizures 33 HP:0010819
5 focal impaired awareness seizure 33 HP:0002384
6 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
atonic 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 30 STX1B

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

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 9

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 9

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

76
# Symbol AA change Variation ID SNP ID
1 STX1B p.Val216Glu VAR_072675 rs724159974
2 STX1B p.Gly226Arg VAR_072676 rs727502806

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 STX1B NM_052874.5(STX1B): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic rs724159973 GRCh38 Chromosome 16, 31001133: 31001133
2 STX1B NM_052874.5(STX1B): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic rs724159973 GRCh37 Chromosome 16, 31012454: 31012454
3 STX1B NM_052874.4(STX1B): c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu) insertion Pathogenic rs1114167275 GRCh37 Chromosome 16, 31012486: 31012487
4 STX1B NM_052874.4(STX1B): c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu) insertion Pathogenic rs1114167275 GRCh38 Chromosome 16, 31001165: 31001166
5 STX1B NM_052874.5(STX1B): c.140C> A (p.Ser47Ter) single nucleotide variant Pathogenic rs200979563 GRCh38 Chromosome 16, 31001159: 31001159
6 STX1B NM_052874.5(STX1B): c.140C> A (p.Ser47Ter) single nucleotide variant Pathogenic rs200979563 GRCh37 Chromosome 16, 31012480: 31012480
7 STX1B NM_052874.5(STX1B): c.647T> A (p.Val216Glu) single nucleotide variant Pathogenic rs724159974 GRCh38 Chromosome 16, 30993375: 30993375
8 STX1B NM_052874.5(STX1B): c.647T> A (p.Val216Glu) single nucleotide variant Pathogenic rs724159974 GRCh37 Chromosome 16, 31004696: 31004696
9 STX1B NM_052874.4(STX1B): c.676G> C (p.Gly226Arg) single nucleotide variant Pathogenic rs727502806 GRCh38 Chromosome 16, 30993240: 30993240
10 STX1B NM_052874.4(STX1B): c.676G> C (p.Gly226Arg) single nucleotide variant Pathogenic rs727502806 GRCh37 Chromosome 16, 31004561: 31004561
11 STX1B NM_052874.4(STX1B): c.845T> C (p.Ile282Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs763428520 GRCh37 Chromosome 16, 31004164: 31004164
12 STX1B NM_052874.4(STX1B): c.845T> C (p.Ile282Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs763428520 GRCh38 Chromosome 16, 30992843: 30992843
13 STX1B NC_000016.10: g.(?_30992801)_(31068051_?)del deletion Pathogenic GRCh37 Chromosome 16, 31004122: 31079372
14 STX1B NC_000016.10: g.(?_30992801)_(31068051_?)del deletion Pathogenic GRCh38 Chromosome 16, 30992801: 31068051
15 STX1B NM_052874.4(STX1B): c.609G> A (p.Lys203=) single nucleotide variant Benign rs61733980 GRCh37 Chromosome 16, 31004734: 31004734
16 STX1B NM_052874.4(STX1B): c.609G> A (p.Lys203=) single nucleotide variant Benign rs61733980 GRCh38 Chromosome 16, 30993413: 30993413
17 STX1B NM_052874.4(STX1B): c.96C> A (p.Phe32Leu) single nucleotide variant Uncertain significance rs758734411 GRCh37 Chromosome 16, 31012859: 31012859
18 STX1B NM_052874.4(STX1B): c.96C> A (p.Phe32Leu) single nucleotide variant Uncertain significance rs758734411 GRCh38 Chromosome 16, 31001538: 31001538
19 STX1B NM_052874.4(STX1B): c.852G> A (p.Gly284=) single nucleotide variant Likely benign rs199880822 GRCh38 Chromosome 16, 30992836: 30992836
20 STX1B NM_052874.4(STX1B): c.852G> A (p.Gly284=) single nucleotide variant Likely benign rs199880822 GRCh37 Chromosome 16, 31004157: 31004157
21 STX1B NM_052874.4(STX1B): c.786+6C> T single nucleotide variant Likely benign rs750134526 GRCh38 Chromosome 16, 30993124: 30993124
22 STX1B NM_052874.4(STX1B): c.786+6C> T single nucleotide variant Likely benign rs750134526 GRCh37 Chromosome 16, 31004445: 31004445
23 STX1B NM_052874.4(STX1B): c.538-5C> G single nucleotide variant Benign/Likely benign rs145815305 GRCh38 Chromosome 16, 30993489: 30993489
24 STX1B NM_052874.4(STX1B): c.538-5C> G single nucleotide variant Benign/Likely benign rs145815305 GRCh37 Chromosome 16, 31004810: 31004810
25 STX1B NM_052874.4(STX1B): c.75G> A (p.Arg25=) single nucleotide variant Likely benign rs747223515 GRCh38 Chromosome 16, 31001559: 31001559
26 STX1B NM_052874.4(STX1B): c.75G> A (p.Arg25=) single nucleotide variant Likely benign rs747223515 GRCh37 Chromosome 16, 31012880: 31012880
27 STX1B NM_052874.4(STX1B): c.105+10C> T single nucleotide variant Likely benign rs370337339 GRCh37 Chromosome 16, 31012840: 31012840
28 STX1B NM_052874.4(STX1B): c.105+10C> T single nucleotide variant Likely benign rs370337339 GRCh38 Chromosome 16, 31001519: 31001519
29 STX1B NM_052874.4(STX1B): c.513G> C (p.Gly171=) single nucleotide variant Benign rs143402089 GRCh37 Chromosome 16, 31008028: 31008028
30 STX1B NM_052874.4(STX1B): c.513G> C (p.Gly171=) single nucleotide variant Benign rs143402089 GRCh38 Chromosome 16, 30996707: 30996707
31 STX1B NM_052874.4(STX1B): c.463A> G (p.Thr155Ala) single nucleotide variant Uncertain significance rs1327694789 GRCh37 Chromosome 16, 31008272: 31008272
32 STX1B NM_052874.4(STX1B): c.463A> G (p.Thr155Ala) single nucleotide variant Uncertain significance rs1327694789 GRCh38 Chromosome 16, 30996951: 30996951
33 STX1B NM_052874.4(STX1B): c.33G> A (p.Ala11=) single nucleotide variant Likely benign rs774354732 GRCh37 Chromosome 16, 31012922: 31012922
34 STX1B NM_052874.4(STX1B): c.33G> A (p.Ala11=) single nucleotide variant Likely benign rs774354732 GRCh38 Chromosome 16, 31001601: 31001601
35 STX1B NM_052874.4(STX1B): c.426C> T (p.Asp142=) single nucleotide variant Likely benign rs1234767441 GRCh38 Chromosome 16, 30996988: 30996988
36 STX1B NM_052874.4(STX1B): c.426C> T (p.Asp142=) single nucleotide variant Likely benign rs1234767441 GRCh37 Chromosome 16, 31008309: 31008309
37 STX1B NM_052874.4(STX1B): c.108G> A (p.Val36=) single nucleotide variant Likely benign rs758008534 GRCh38 Chromosome 16, 31001191: 31001191
38 STX1B NM_052874.4(STX1B): c.108G> A (p.Val36=) single nucleotide variant Likely benign rs758008534 GRCh37 Chromosome 16, 31012512: 31012512
39 STX1B NM_052874.4(STX1B): c.60G> T (p.Val20=) single nucleotide variant Likely benign rs772989451 GRCh38 Chromosome 16, 31001574: 31001574
40 STX1B NM_052874.4(STX1B): c.60G> T (p.Val20=) single nucleotide variant Likely benign rs772989451 GRCh37 Chromosome 16, 31012895: 31012895
41 STX1B NM_052874.4(STX1B): c.837G> A (p.Ala279=) single nucleotide variant Benign/Likely benign rs150313069 GRCh37 Chromosome 16, 31004172: 31004172
42 STX1B NM_052874.4(STX1B): c.837G> A (p.Ala279=) single nucleotide variant Benign/Likely benign rs150313069 GRCh38 Chromosome 16, 30992851: 30992851
43 STX1B NM_052874.4(STX1B): c.355-5C> T single nucleotide variant Likely benign rs1410123185 GRCh37 Chromosome 16, 31008385: 31008385
44 STX1B NM_052874.4(STX1B): c.355-5C> T single nucleotide variant Likely benign rs1410123185 GRCh38 Chromosome 16, 30997064: 30997064
45 STX1B NM_052874.4(STX1B): c.355-8C> G single nucleotide variant Benign rs772649813 GRCh37 Chromosome 16, 31008388: 31008388
46 STX1B NM_052874.4(STX1B): c.355-8C> G single nucleotide variant Benign rs772649813 GRCh38 Chromosome 16, 30997067: 30997067
47 STX1B NM_052874.4(STX1B): c.463+6T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 30996945: 30996945
48 STX1B NM_052874.4(STX1B): c.463+6T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 31008266: 31008266
49 STX1B NM_052874.4(STX1B): c.35_36dup (p.Asp13Lysfs) duplication Pathogenic GRCh38 Chromosome 16, 31001598: 31001599
50 STX1B NM_052874.4(STX1B): c.35_36dup (p.Asp13Lysfs) duplication Pathogenic GRCh37 Chromosome 16, 31012919: 31012920

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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