EPILEPSY, NOCTURNAL FRONTAL LOBE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ENFL1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 600513
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 1089 / 7739
2
(OMIM) Unintelligible speech 2 / 7739
3
(OMIM) Tonic head extension 1 / 7739
4
(OMIM) Arm flexion 1 / 7739
5
(OMIM) Mouth movements 1 / 7739
6
(OMIM) Motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening 1 / 7739
7
(OMIM) Ictal EEG showed partial seizures with frontal lobe origin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Scheffer et al. (1994) and Scheffer et al. (1995) reported 5 families from Australia, Britain, and Canada in which 47 members were affected with ADNFLE. The largest family contained 25 affected individuals spanning 6 generations. Onset was usually ...
Molecular genetics OMIM In affected members of a large Australian kindred with ADNFLE reported by Scheffer et al. (1995) and Phillips et al. (1995), Steinlein et al. (1995) identified a mutation in the CHRNA4 gene (118504.0002).

In a Japanese ...