EPILEPSY, MYOCLONIC JUVENILE

General Information (adopted from Orphanet):

Synonyms, Signs: EJM1, INCLUDED
JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED
PETIT MAL, IMPULSIVE
MYOCLONIC EPILEPSY, JUVENILE
EJM
JME
Number of Symptoms 7
OrphanetNr:
OMIM Id: 254770
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0001336) Myoclonus 115 / 7739
2
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
(HPO:0002121) Absence seizures 62 / 7739
4
(OMIM) 3-6 Hz polyspike EEG 2 / 7739
5
(OMIM) Normal intelligence 81 / 7739
6
(OMIM) Photosensitivity in one-third of patients 2 / 7739
7
(OMIM) Status epilepticus may occur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks ...
Clinical Description OMIM Dreifuss (1989) gave a clinical review. He reported the case of a young college woman who sought medical treatment after experiencing her first generalized convulsive seizure, which occurred after a period of sleep deprivation and alcohol consumption. She ...
Molecular genetics OMIM In affected members of 6 unrelated families with juvenile myoclonic epilepsy, Suzuki et al. (2004) identified several heterozygous mutations in the EFHC1 gene (608815.0001-608815.0005). Several unaffected family members carried mutations, indicating reduced penetrance. The affected families included the ...
Population genetics OMIM Bai et al. (2002) stated that juvenile myoclonic epilepsy accounts for 4 to 11% of all epilepsies.