Epilepsy, nocturnal frontal lobe, 5

Preferred Label : Epilepsy, nocturnal frontal lobe, 5;

Symbol : ENFL5;

CISMeF acronym : ENFL5;

Type : Phenotype, molecular basis known;

Description : Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, subfamily T, member 1 gene (KCNT1, 608167.0005);

Prefixed ID : #615005;

Details

Origin ID

615005;

UMLS CUI

C3554306;

CISMeF manual mappings
- autosomal dominant nocturnal frontal lobe epilepsy 5 [DO Concept]
DO Cross reference
- autosomal dominant nocturnal frontal lobe epilepsy 5 [DO Concept]
Genes related to phenotype
- Potassium channel, subfamily t, member 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cognitive impairment [HPO term]
- Depression [HPO term]
- Focal-onset seizure [HPO term]
- Intellectual disability [HPO term]
- Personality disorder [HPO term]
- Psychosis [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nocturnal frontal lobe epilepsy 5 [DO Concept]
Validated automatic mappings to NTBT
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]

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