Here I present: “Juvenile-myoclonic Epilepsy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (JME) icd10=G40.B19
INTRODUCTION.
Juvenile-myoclonic epilepsy (JME) is a subtype of idiopathic generalized epilepsy. Manifestations occur around puberty, in contrast to childhood absence epilepsy which begins at age 6 to 7 years. Absence seizures generalized tonic-clonic seizures (GTCS) on awakening, and myoclonic seizures are the main features of juvenile-myoclonic epilepsy (JME).
Juvenile-myoclonic epilepsy (JME) is a form of hereditary, idiopathic generalized epilepsy, representing 5–10% of all epilepsy cases. Typically, it first presents between the ages of 12 and 18 with myoclonic seizures (brief, involuntary, single or multiple episodes of muscle contractions caused by abnormal excessive or synchronous neuronal activity in the brain). These events typically occur after awakening from sleep, during the evening or when sleep deprived. JME is also characterized by generalized tonic–clonic seizures, and a minority of patients have absence seizures. It was first described by Théodore Herpin in 1857. Understanding of the genetics of JME has been rapidly evolving since the 1990s, and over 20 chromosomal loci and multiple genes have been identified. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.
A mutation in the protein “myoclonin” also called EF-hand domain (C-terminal) containing-1 (EFHC1) has been associated with juvenile myoclonic epilepsy (JME). The screenshot of the EFHC1 gene 76,857 bp (base pairs) of DNA sequence length is shown BELOW. The EFHC1 gene is on cytogenetic location 6p12.3 and genomic coordinates 6:52,420,342-52,497,198. Nine (9) other genes besides EFHC1 in the cytogenetic location 6p12.3 are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:52,186,375 | IL17A | Interleukin-17a |
| 6:52,236,681 | IL17F | Interleukin 17F |
| 6:52,264,015 | MCM3 | Minichromosome maintenance complex component 3 |
| 6:52,362,151 | PAQR8 | Progestin and ADIPOQ receptor family, member 8 |
| 6:52,420,342 | EFHC1 | EF hand domain (C-terminal)-containing 1 |
| 6:52,497,408 | TRAM2 | Translocation-associated membrane protein 2 |
| 6:52,671,113 | TMEM14A | Transmembrane protein 14A |
| 6:52,750,087 | GSTA2 | Glutathione S-transferase A2 |
| 6:52,791,371 | GSTA1 | Glutathione S-transferase A1 |
| 6:52,831,692 | GSTA5 | Glutathione S-transferase, alpha-5 |
