FEBRILE SEIZURES, FAMILIAL, 11

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, FAMILIAL FEBRILE, 11
FEB11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614418
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0002373) Febrile seizures 37 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause 6 / 7739
5
(OMIM) Hippocampal atrophy (1 patient) 2 / 7739
6
(OMIM) Seizures, temporal lobe 2 / 7739
7
(OMIM) Partial seizures, simple and complex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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., ...
Clinical Description OMIM Salzmann et al. (2012) reported 4 sibs, born of consanguineous Moroccan parents, with highly variable manifestations of a seizure disorder. Three patients had febrile seizures only, and 1 had febrile seizures and later developed temporal lobe epilepsy. The ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene analysis of a consanguineous Moroccan family in which 4 sibs had febrile seizures, 1 of whom also had temporal lobe epilepsy, Salzmann et al. (2012) identified a homozygous mutation in the ...