EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1

General Information (adopted from Orphanet):

Synonyms, Signs: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1
BAFME1
FCMTE1
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1
FAME1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 601068
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001351) Jerk-locked premyoclonus spikes 5 / 7739
2
 (HPO:0001312) Giant somatosensory evoked potentials 4 / 7739
3
 (HPO:0010852) EEG with photoparoxysmal response 7 / 7739
4
 (HPO:0001340) Enhancement of the C-reflex 5 / 7739
5
 (OMIM) Mental retardation has been reported 3 / 7739
6
 (OMIM) EEG shows generalized and focal spike and wave complexes 2 / 7739
7
 (OMIM) Movements ('tremors') characterized by 8 to 10-Hz discharges 3 / 7739
8
 (OMIM) Electrophysiologic studies indicate cortical origin 3 / 7739
9
 (OMIM) Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers 3 / 7739
10
 (OMIM) Generalized tonic-clonic seizures (GTCS), infrequent 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and ...
Clinical Description OMIM Ikeda et al. (1990) reported 2 Japanese patients with a disorder characterized by adult-onset of nonprogressive postural and action finger tremor, seizures, and a family history of the condition. EMG showed that the tremor was associated with a ...