EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4

General Information (adopted from Orphanet):

Synonyms, Signs: FCMTE4
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4
FAME4
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615127
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001340) Enhancement of the C-reflex 5 / 7739
2
(HPO:0001351) Jerk-locked premyoclonus spikes 5 / 7739
3
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(OMIM) Cortical origin of the tremor 1 / 7739
6
(OMIM) Giant cortical somatosensory evoked potentials (SEPs) 2 / 7739
7
(HPO:0003680) Nonprogressive disorder 23 / 7739
8
(OMIM) EEG shows spike and wave or polyspike and wave discharges 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Multifocal discharges associated with contralateral jerky movements 1 / 7739
11
(OMIM) Involuntary rhythmic myoclonic movements ('tremor'), upper extremities 1 / 7739
12
(OMIM) Photoparoxysmal and photomyoclonic responses 1 / 7739
13
(OMIM) Cortical reflex myoclonus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yeetong et al. (2013) reported a large 3-generation Thai family in which 13 individuals had adult-onset cortical tremor, 7 of whom also had generalized seizures. The average age of onset was 19.5 years (range 10-33) for tremor and ...