EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3

General Information (adopted from Orphanet):

Synonyms, Signs: FCMTE3
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3
FAME3
Number of Symptoms 19
OrphanetNr:
OMIM Id: 613608
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
Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007359) Focal seizures 27 / 7739
2
(HPO:0001340) Enhancement of the C-reflex 5 / 7739
3
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
(HPO:0002355) Difficulty walking 61 / 7739
5
(HPO:0001337) Tremor 200 / 7739
6
(HPO:0001336) Myoclonus 115 / 7739
7
(HPO:0001351) Jerk-locked premyoclonus spikes 5 / 7739
8
(HPO:0010852) EEG with photoparoxysmal response 7 / 7739
9
(HPO:0001312) Giant somatosensory evoked potentials 4 / 7739
10
(HPO:0011463) Childhood onset 65 / 7739
11
(OMIM) Giant cortical somatosensory evoked potentials (SEPs) 2 / 7739
12
(OMIM) Electrophysiologic studies indicate cortical origin 3 / 7739
13
(OMIM) Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers 3 / 7739
14
(OMIM) Walking impairment due to myoclonus late in disease 1 / 7739
15
(OMIM) Movements ('tremors') characterized by 8 to 10-Hz discharges 3 / 7739
16
(HPO:0003581) Adult onset 117 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(HPO:0003680) Nonprogressive disorder 23 / 7739
19
(OMIM) Generalized and focal spike and wave complexes seen on EEG 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Depienne et al. (2010) reported a large French family in which 16 individuals had a form of myoclonic epilepsy. Most patients had onset as adults in their twenties or thirties, although 1 boy had onset of cortical myoclonus ...