FEB11
MCID: FBR072
MIFTS: 23

Febrile Seizures, Familial, 11 (FEB11)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 11

MalaCards integrated aliases for Febrile Seizures, Familial, 11:

Name: Febrile Seizures, Familial, 11 57 75 29 13 6 40
Feb11 57 75
Familial Mesial Temporal Lobe Epilepsy with Febrile Seizures 59
Convulsions, Familial Febrile, 11 57
Familial Febrile Convulsions 11 75
Seizures, Febrile 44

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
seizures remit in later childhood
one consanguineous moroccan family has been reported (as of january 2012)


HPO:

32
febrile seizures, familial, 11:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614418
Orphanet 59 ORPHA165805
MedGen 42 C3280734
MeSH 44 D003294
SNOMED-CT via HPO 69 258211005 54200006 41497008

Summaries for Febrile Seizures, Familial, 11

UniProtKB/Swiss-Prot : 75 Febrile seizures, familial, 11: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.

MalaCards based summary : Febrile Seizures, Familial, 11, also known as feb11, is related to febrile seizures and myoclonic epilepsy, familial infantile. An important gene associated with Febrile Seizures, Familial, 11 is CPA6 (Carboxypeptidase A6). Affiliated tissues include temporal lobe, and related phenotypes are generalized tonic-clonic seizures and febrile seizures

OMIM : 57 Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012). For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210). (614418)

Related Diseases for Febrile Seizures, Familial, 11

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 11:



Diseases related to Febrile Seizures, Familial, 11

Symptoms & Phenotypes for Febrile Seizures, Familial, 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
partial seizures, simple and complex
temporal lobe seizures (in 1 patient)
hippocampal atrophy (1 patient)


Clinical features from OMIM:

614418

Human phenotypes related to Febrile Seizures, Familial, 11:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 febrile seizures 32 HP:0002373
3 hippocampal atrophy 32 very rare (1%) HP:0410170

Drugs & Therapeutics for Febrile Seizures, Familial, 11

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Capacitive Diathermy in the Lumbopelvic Pain Unknown status NCT02736201 Not Applicable

Search NIH Clinical Center for Febrile Seizures, Familial, 11

Cochrane evidence based reviews: seizures, febrile

Genetic Tests for Febrile Seizures, Familial, 11

Genetic tests related to Febrile Seizures, Familial, 11:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 11 29 CPA6

Anatomical Context for Febrile Seizures, Familial, 11

MalaCards organs/tissues related to Febrile Seizures, Familial, 11:

41
Temporal Lobe

Publications for Febrile Seizures, Familial, 11

Articles related to Febrile Seizures, Familial, 11:

# Title Authors Year
1
The role of neuroimaging in the investigation of patients with single seizures, febrile seizures, or refractory partial seizures. ( 14976443 )
2004

Variations for Febrile Seizures, Familial, 11

UniProtKB/Swiss-Prot genetic disease variations for Febrile Seizures, Familial, 11:

75
# Symbol AA change Variation ID SNP ID
1 CPA6 p.Ala270Val VAR_066947 rs114402678

ClinVar genetic disease variations for Febrile Seizures, Familial, 11:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.809C> T (p.Ala270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114402678 GRCh37 Chromosome 8, 68396032: 68396032
2 CPA6 NM_020361.4(CPA6): c.809C> T (p.Ala270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114402678 GRCh38 Chromosome 8, 67483797: 67483797
3 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh37 Chromosome 8, 68396042: 68396042
4 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh38 Chromosome 8, 67483807: 67483807
5 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
6 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
7 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
8 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
9 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
10 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
11 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
12 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
13 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
14 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
15 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh37 Chromosome 8, 68396050: 68396050
16 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh38 Chromosome 8, 67483815: 67483815
17 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh37 Chromosome 8, 68421781: 68421781
18 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh38 Chromosome 8, 67509546: 67509546
19 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh37 Chromosome 8, 68423882: 68423882
20 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh38 Chromosome 8, 67511647: 67511647
21 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh37 Chromosome 8, 68419039: 68419039
22 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh38 Chromosome 8, 67506804: 67506804
23 CPA6 NM_020361.4(CPA6): c.707C> T (p.Pro236Leu) single nucleotide variant Uncertain significance rs201552815 GRCh38 Chromosome 8, 67484719: 67484719
24 CPA6 NM_020361.4(CPA6): c.707C> T (p.Pro236Leu) single nucleotide variant Uncertain significance rs201552815 GRCh37 Chromosome 8, 68396954: 68396954
25 CPA6 NM_020361.4(CPA6): c.557A> G (p.Lys186Arg) single nucleotide variant Uncertain significance rs199576384 GRCh37 Chromosome 8, 68419101: 68419101
26 CPA6 NM_020361.4(CPA6): c.557A> G (p.Lys186Arg) single nucleotide variant Uncertain significance rs199576384 GRCh38 Chromosome 8, 67506866: 67506866
27 CPA6 NM_020361.4(CPA6): c.931C> T (p.Arg311Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs139145929 GRCh37 Chromosome 8, 68346383: 68346383
28 CPA6 NM_020361.4(CPA6): c.931C> T (p.Arg311Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs139145929 GRCh38 Chromosome 8, 67434148: 67434148
29 CPA6 NM_020361.4(CPA6): c.1026C> G (p.Pro342=) single nucleotide variant Conflicting interpretations of pathogenicity rs372964579 GRCh37 Chromosome 8, 68346288: 68346288
30 CPA6 NM_020361.4(CPA6): c.1026C> G (p.Pro342=) single nucleotide variant Conflicting interpretations of pathogenicity rs372964579 GRCh38 Chromosome 8, 67434053: 67434053
31 CPA6 NM_020361.4(CPA6): c.1087G> A (p.Gly363Arg) single nucleotide variant Uncertain significance rs368528528 GRCh37 Chromosome 8, 68340321: 68340321
32 CPA6 NM_020361.4(CPA6): c.1087G> A (p.Gly363Arg) single nucleotide variant Uncertain significance rs368528528 GRCh38 Chromosome 8, 67428086: 67428086
33 CPA6 NM_020361.4(CPA6): c.861T> C (p.Pro287=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 68346453: 68346453
34 CPA6 NM_020361.4(CPA6): c.861T> C (p.Pro287=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 67434218: 67434218
35 CPA6 NM_020361.4(CPA6): c.757T> G (p.Trp253Gly) single nucleotide variant Uncertain significance rs781369203 GRCh38 Chromosome 8, 67483849: 67483849
36 CPA6 NM_020361.4(CPA6): c.757T> G (p.Trp253Gly) single nucleotide variant Uncertain significance rs781369203 GRCh37 Chromosome 8, 68396084: 68396084
37 CPA6 NM_020361.4(CPA6): c.637-3T> C single nucleotide variant Benign rs138798669 GRCh37 Chromosome 8, 68397027: 68397027
38 CPA6 NM_020361.4(CPA6): c.637-3T> C single nucleotide variant Benign rs138798669 GRCh38 Chromosome 8, 67484792: 67484792
39 CPA6 NM_020361.4(CPA6): c.1271C> T (p.Ala424Val) single nucleotide variant Uncertain significance rs72654981 GRCh37 Chromosome 8, 68334782: 68334782
40 CPA6 NM_020361.4(CPA6): c.1271C> T (p.Ala424Val) single nucleotide variant Uncertain significance rs72654981 GRCh38 Chromosome 8, 67422547: 67422547
41 CPA6 NM_020361.4(CPA6): c.116+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67746009: 67746009
42 CPA6 NM_020361.4(CPA6): c.116+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68658244: 68658244
43 CPA6 NM_020361.4(CPA6): c.916G> A (p.Val306Ile) single nucleotide variant Likely benign rs147046973 GRCh37 Chromosome 8, 68346398: 68346398
44 CPA6 NM_020361.4(CPA6): c.916G> A (p.Val306Ile) single nucleotide variant Likely benign rs147046973 GRCh38 Chromosome 8, 67434163: 67434163
45 CPA6 NM_020361.4(CPA6): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67509557: 67509557
46 CPA6 NM_020361.4(CPA6): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68421792: 68421792
47 CPA6 NM_020361.4(CPA6): c.1199G> A (p.Arg400His) single nucleotide variant Uncertain significance rs746177954 GRCh37 Chromosome 8, 68334854: 68334854
48 CPA6 NM_020361.4(CPA6): c.1199G> A (p.Arg400His) single nucleotide variant Uncertain significance rs746177954 GRCh38 Chromosome 8, 67422619: 67422619
49 CPA6 NM_020361.4(CPA6): c.534+4A> G single nucleotide variant Uncertain significance rs766728291 GRCh38 Chromosome 8, 67509513: 67509513
50 CPA6 NM_020361.4(CPA6): c.534+4A> G single nucleotide variant Uncertain significance rs766728291 GRCh37 Chromosome 8, 68421748: 68421748

Expression for Febrile Seizures, Familial, 11

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GO Terms for Febrile Seizures, Familial, 11

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