Epilepsy, nocturnal frontal lobe, 2

Preferred Label : Epilepsy, nocturnal frontal lobe, 2;

Symbol : ENFL2;

CISMeF acronym : ENFL2;

Type : Phenotype or locus, molecular basis unknown;

Description : Nocturnal frontal lobe epilepsy-2 (ENFL2) 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 (summary by Derry et al., 2008). For a general description and a discussion of genetic heterogeneity of;

Inheritance : Autosomal dominant;

Prefixed ID : %603204;

Details

Origin ID

603204;

UMLS CUI

C1864125;

Broader ORDO disease(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
CISMeF manual mappings
- autosomal dominant nocturnal frontal lobe epilepsy 2 [DO Concept]
Currated CISMeF NLP mapping
- epilepsy, nocturnal frontal lobe, type 2 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 2 [MeSH concept]
DO Cross reference
- autosomal dominant nocturnal frontal lobe epilepsy 2 [DO Concept]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Depression [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 2 [DO Concept]
- epilepsy, nocturnal frontal lobe, type 2 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]

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