Febrile seizures, familial, 11

Preferred Label : Febrile seizures, familial, 11;

Symbol : FEB11;

CISMeF acronym : FEB11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Convulsions, familial febrile, 11;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carboxypeptidase A6 gene (CPA6, 609562.0001);

Prefixed ID : #614418;

Details

Origin ID

614418;

UMLS CUI

C3280734;

Automatic exact mappings (from CISMeF team)
- CPA6 wt Allele [NCIt concept]
- familial febrile seizures 11 [DO Concept]
DO Cross reference
- familial febrile seizures 11 [DO Concept]
Genes related to phenotype
- Carboxypeptidase a6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal impaired awareness seizure [HPO term]
- Hippocampal atrophy [HPO term]
ORDO concept(s)
- Familial mesial temporal lobe epilepsy with febrile seizures [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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