Epilepsy, nocturnal frontal lobe, 1

Preferred Label : Epilepsy, nocturnal frontal lobe, 1;

Symbol : ENFL1;

CISMeF acronym : ENFL1;

Type : Phenotype, molecular basis known;

Description : Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). - Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24;;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (CHRNA4, 118504.0002);

Prefixed ID : #600513;

Details

Origin ID

600513;

UMLS CUI

C1838049;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
- epilepsy, nocturnal frontal lobe, type 1 [MeSH concept]
- epilepsy, nocturnal frontal lobe, type 1 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nocturnal frontal lobe epilepsy 1 [DO Concept]
DO Cross reference
- autosomal dominant nocturnal frontal lobe epilepsy 1 [DO Concept]
Genes related to phenotype
- Cholinergic receptor, neuronal nicotinic, alpha polypeptide 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebrovascular accident [HPO term]
- Childhood onset [HPO term]
- Epilepsy [HPO term]
- Focal-onset seizure [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Seizures occur in clusters [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 1 [DO Concept]
- epilepsy, nocturnal frontal lobe, type 1 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 1 [MeSH concept]

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