juvenile myoclonic epilepsy (of Janz)
Jump to navigation
Jump to search
Epidemiology
- begins in healthy individuals between 8 & 20 years of age
- one of the most common forms of generalized epilepsy in adults[1]
Genetics
- linked to a marker on chromosome 6
- associated with defects in GABRA1
- often a family history of similar seizures
- type 1 associated with defects in EFHC1 gene
- associated with defects in CACNB4
Clinical manifestations
- manifestations begin in adolescence (type 1)
- myoclonic jerks, ranging from
- generalized tonic-clonic seizures
- myoclonic jerks & seizures generally occur after awakening
- absence seizures may also occur
- early morning clumbsiness may be reported
- symptoms triggered by sleep deprivation & fatigue
- symptoms may be triggered by alcohol[1]
Laboratory
- electroencephalogram (EEG)
- generalized spikes, 4-6 Hz spike wave complexes & multiple spike discharges
Management
- responds well to valproic acid
- lifelong anticonvulcant therapy[1]
More general terms
References
- ↑ Jump up to: 1.0 1.1 1.2 1.3 1.4 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2021.
- ↑ OMIM https://mirror.omim.org/entry/606904
- ↑ Genton P, Gelisse P. Juvenile myoclonic epilepsy. Arch Neurol. 2001 Sep;58(9):1487-90. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11559326