Benign adult familial myoclonic epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: ADCME
FCMTE
BAFME
FAME
Autosomal dominant cortical myoclonus and epilepsy
Familial cortical myoclonic tremor and epilepsy
Familial adult myoclonic epilepsy
Number of Symptoms 18
OrphanetNr: 86814
OMIM Id: 601068
607876
613608
615127
615400
ICD-10: G40.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Adolescent-onset epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease
Primary myoclonus
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100576) Amaurosis fugax Occasional [Orphanet] 13 / 7739
2
 (HPO:0001312) Giant somatosensory evoked potentials 4 / 7739
3
 (HPO:0001249) Intellectual disability Rare [HPO:curators] 1089 / 7739
4
 (HPO:0001351) Jerk-locked premyoclonus spikes 5 / 7739
5
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
6
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
7
 (HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
8
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
9
 (HPO:0001340) Enhancement of the C-reflex 5 / 7739
10
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
11
 (HPO:0001326) EEG with irregular generalized spike and wave complexes 3 / 7739
12
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
13
 (HPO:0010852) EEG with photoparoxysmal response 7 / 7739
14
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (HPO:0003581) Adult onset 117 / 7739
18
 (HPO:0003680) Nonprogressive disorder 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: