Epilepsy, nocturnal frontal lobe, 4

Preferred Label : Epilepsy, nocturnal frontal lobe, 4;

Symbol : ENFL4;

CISMeF acronym : BFIC6; BFIS6; ENFL4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epilepsy, familial, with nocturnal wandering and ictal fear;

Included titles and symbols : Seizures, benign familial infantile, 6; Convulsions, benign familial infantile, 6; BFIS6; BFIC6;

Description : Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 2 gene (CHRNA2, 118502.0001);

Prefixed ID : #610353;

Details

Origin ID

610353;

UMLS CUI

C1835905;

Broader ORDO disease(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
CISMeF manual mappings
- autosomal dominant nocturnal frontal lobe epilepsy 4 [DO Concept]
Currated CISMeF NLP mapping
- epilepsy, nocturnal frontal lobe, type 4 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 4 [MeSH concept]
DO Cross reference
- autosomal dominant nocturnal frontal lobe epilepsy 4 [DO Concept]
Genes related to phenotype
- Cholinergic receptor, neuronal nicotinic, alpha polypeptide 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Confusion [HPO term]
- Dystonia [HPO term]
- Heterogeneous [HPO term]
- Incomplete penetrance [HPO term]
- Seizure [HPO term]
- Shivering [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [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 4 [DO Concept]
- epilepsy, nocturnal frontal lobe, type 4 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 4 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]

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