EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5

General Information (adopted from Orphanet):

Synonyms, Signs: CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5
FCMTE5
FAME5
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
2
(HPO:0001337) Tremor 200 / 7739
3
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(HPO:0007359) Focal seizures 27 / 7739
6
(OMIM) Temporal epileptiform discharges seen on EEG 1 / 7739
7
(OMIM) Mesial temporal sclerosis (in 1 patient) 1 / 7739
8
(MedDRA:10054089) Depressive symptom 1 / 7739
9
(OMIM) Borderline intelligence 1 / 7739
10
(OMIM) Cortical myoclonic tremors characterized by 8 to 10-Hz discharges 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Auditory, olfactory, and visual auras 1 / 7739
13
(OMIM) Head nodding 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stogmann et al. (2013) reported a consanguineous Egyptian family in which 5 sibs had onset of seizures in adolescence (age 11 to 14 years). Seizure types included both complex partial seizures and generalized seizures, often with an olfactory, ...
Molecular genetics OMIM In affected members of an Egyptian family with FAME5, Stogmann et al. (2013) identified a homozygous frameshift mutation in the CNTN2 gene (190197.0001). The mutation was found by exome sequencing, segregated with the disorder in the family, and ...