MCID: FBR072
MIFTS: 23

Febrile Seizures, Familial, 11

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:
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
onset in infancy or early childhood
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:
seizures, generalized, associated with fever
partial seizures, simple and complex
generalized tonic-clonic seizures
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

Drugs & Therapeutics for Febrile Seizures, Familial, 11

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Capacitive Diathermy in the Lumbopelvic Pain Recruiting 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 all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh37 Chromosome 8, 68396042: 68396042
2 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh38 Chromosome 8, 67483807: 67483807
3 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
4 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
5 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
6 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
7 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
8 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
9 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
10 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
11 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
12 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
13 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh37 Chromosome 8, 68421781: 68421781
14 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh38 Chromosome 8, 67509546: 67509546
15 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh37 Chromosome 8, 68419039: 68419039
16 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh38 Chromosome 8, 67506804: 67506804
17 CPA6 NM_020361.4(CPA6): c.1026C> G (p.Pro342=) single nucleotide variant Likely benign rs372964579 GRCh37 Chromosome 8, 68346288: 68346288
18 CPA6 NM_020361.4(CPA6): c.1026C> G (p.Pro342=) single nucleotide variant Likely benign rs372964579 GRCh38 Chromosome 8, 67434053: 67434053
19 CPA6 NM_020361.4(CPA6): c.1087G> A (p.Gly363Arg) single nucleotide variant Uncertain significance rs368528528 GRCh37 Chromosome 8, 68340321: 68340321
20 CPA6 NM_020361.4(CPA6): c.1087G> A (p.Gly363Arg) single nucleotide variant Uncertain significance rs368528528 GRCh38 Chromosome 8, 67428086: 67428086
21 CPA6 NM_020361.4(CPA6): c.861T> C (p.Pro287=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 67434218: 67434218
22 CPA6 NM_020361.4(CPA6): c.861T> C (p.Pro287=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 68346453: 68346453
23 CPA6 NM_020361.4(CPA6): c.757T> G (p.Trp253Gly) single nucleotide variant Uncertain significance rs781369203 GRCh38 Chromosome 8, 67483849: 67483849
24 CPA6 NM_020361.4(CPA6): c.757T> G (p.Trp253Gly) single nucleotide variant Uncertain significance rs781369203 GRCh37 Chromosome 8, 68396084: 68396084
25 CPA6 NM_020361.4(CPA6): c.637-3T> C single nucleotide variant Benign rs138798669 GRCh37 Chromosome 8, 68397027: 68397027
26 CPA6 NM_020361.4(CPA6): c.637-3T> C single nucleotide variant Benign rs138798669 GRCh38 Chromosome 8, 67484792: 67484792
27 CPA6 NM_020361.4(CPA6): c.1271C> T (p.Ala424Val) single nucleotide variant Uncertain significance rs72654981 GRCh37 Chromosome 8, 68334782: 68334782
28 CPA6 NM_020361.4(CPA6): c.1271C> T (p.Ala424Val) single nucleotide variant Uncertain significance rs72654981 GRCh38 Chromosome 8, 67422547: 67422547
29 CPA6 NM_020361.4(CPA6): c.916G> A (p.Val306Ile) single nucleotide variant Likely benign rs147046973 GRCh37 Chromosome 8, 68346398: 68346398
30 CPA6 NM_020361.4(CPA6): c.916G> A (p.Val306Ile) single nucleotide variant Likely benign rs147046973 GRCh38 Chromosome 8, 67434163: 67434163
31 CPA6 NM_020361.4(CPA6): c.116+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67746009: 67746009
32 CPA6 NM_020361.4(CPA6): c.116+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68658244: 68658244
33 CPA6 NM_020361.4(CPA6): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67509557: 67509557
34 CPA6 NM_020361.4(CPA6): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68421792: 68421792
35 CPA6 NM_020361.4(CPA6): c.1199G> A (p.Arg400His) single nucleotide variant Uncertain significance rs746177954 GRCh37 Chromosome 8, 68334854: 68334854
36 CPA6 NM_020361.4(CPA6): c.1199G> A (p.Arg400His) single nucleotide variant Uncertain significance rs746177954 GRCh38 Chromosome 8, 67422619: 67422619
37 CPA6 NM_020361.4(CPA6): c.534+4A> G single nucleotide variant Uncertain significance rs766728291 GRCh38 Chromosome 8, 67509513: 67509513
38 CPA6 NM_020361.4(CPA6): c.534+4A> G single nucleotide variant Uncertain significance rs766728291 GRCh37 Chromosome 8, 68421748: 68421748
39 CPA6 NM_020361.4(CPA6): c.125T> C (p.Val42Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67624243: 67624243
40 CPA6 NM_020361.4(CPA6): c.125T> C (p.Val42Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68536478: 68536478
41 CPA6 NM_020361.4(CPA6): c.759G> A (p.Trp253Ter) single nucleotide variant Likely benign rs139178030 GRCh38 Chromosome 8, 67483847: 67483847
42 CPA6 NM_020361.4(CPA6): c.759G> A (p.Trp253Ter) single nucleotide variant Likely benign rs139178030 GRCh37 Chromosome 8, 68396082: 68396082
43 CPA6 NM_020361.4(CPA6): c.757T> C (p.Trp253Arg) single nucleotide variant Uncertain significance rs781369203 GRCh37 Chromosome 8, 68396084: 68396084
44 CPA6 NM_020361.4(CPA6): c.757T> C (p.Trp253Arg) single nucleotide variant Uncertain significance rs781369203 GRCh38 Chromosome 8, 67483849: 67483849

Expression for Febrile Seizures, Familial, 11

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Pathways for Febrile Seizures, Familial, 11

GO Terms for Febrile Seizures, Familial, 11

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