Cause
JME is believed to be most often caused by a heterogeneous and complex interaction of multiple genes rather than an unidentified single genetic cause. Thus far seven genes and over 20 chromosomal loci have been implicated in the pathogenesis of JME. A minority of cases are caused by single genes and are inherited in an autosomal dominant fashion. The majority of the genes which have been associated with JME encode for ion channel subunits. More recently, variants in intestinal cell kinase which is encoded by a gene on chromosome 6p12 was found to be associated with JME. This gene is involved in mitosis, cell-cycle exit and radial neuroblast migration as well as apoptosis. Another gene that is associated with JME called EFHC1 has similar functions. These findings may explain subtle structural and functional brain abnormalities that are seen in patients with JME.JME is distinct from other forms of genetic generalized epilepsies due to the prominence of myoclonus. There is evidence that patients with JME have hyperexcitable motor cortexes that is most pronounced in the morning and after sleep deprivation. In addition, there is evidence that patients with JME have hyperexcitable and hyperconnected cortical networks that are involved in ictogenesis. Genetics
CACNB4
CACNB4 is a gene that encodes the calcium channel β subunit protein. β subunits are important regulators of calcium channel current amplitude, voltage dependence, and also regulate channel trafficking. In mice, a naturally occurring null mutation leads to the "lethargic" phenotype.
Culture
Stand-up comedian Maisie Adam has JME and her award-winning show "Vague" (2018) discussed it.The 2018 documentary film Separating The Strains dealt with the use of CBD oil to treat symptoms of JME. Currently, no scientific evidence exist to support the use of CBD oil to treat symptoms of JME. See also
Progressive myoclonus epilepsies
Spinal muscular atrophy with progressive myoclonic epilepsy


== References ==