Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy,[1] representing 5–10% of all epilepsy cases.[2][3][4] 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).[5] 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.[6] 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.[7] Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.
^Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. (April 2017). "ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology". Epilepsia. 58 (4): 512–521. doi:10.1111/epi.13709. PMC 5386840. PMID 28276062.
^Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (January 2017). "Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway". Epilepsia. 58 (1): 105–112. doi:10.1111/epi.13613. PMID 27861775. S2CID 46366621.
^Gilsoul M, Grisar T, Delgado-Escueta AV, de Nijs L, Lakaye B (2019). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. PMC 6776584. PMID 31611775.
^Kasteleijn-Nolst Trenité DG, de Weerd A, Beniczky S (July 2013). "Chronodependency and provocative factors in juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S25–S29. doi:10.1016/j.yebeh.2012.11.045. PMID 23756476. S2CID 40326663.
^Striano, Pasquale; Nobile, Carlo (2018-06-01). "The genetic basis of juvenile myoclonic epilepsy". Lancet Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354. S2CID 29164052.
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Juvenilemyoclonicepilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, representing...
Myoclonicepilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain...
syndromes are childhood absence epilepsy, epilepsy with myoclonic absences, juvenile absence epilepsy and juvenilemyoclonicepilepsy. Other proposed syndromes...
forms of essential myoclonus may be a type of epilepsy with no known cause. Juvenilemyoclonicepilepsy (JME) usually consists of jerking and muscle twitches...
Progressive MyoclonicEpilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and...
demonstrated. Also known as Janz syndrome, juvenilemyoclonicepilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of...
known as severe myoclonicepilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged...
examples are benign rolandic epilepsy (2.8 per 100,000), childhood absence epilepsy (0.8 per 100,000) and juvenilemyoclonicepilepsy (0.7 per 100,000). Severe...
Journalism from 2004 to 2011. At 14, Adam was diagnosed with juvenilemyoclonicepilepsy. Adam attended St Aidan's Church of England High School in Harrogate...
absence epilepsy and other generalised epilepsy syndromes, including primary generalised tonic–clonic seizures, juvenilemyoclonicepilepsy, and Lennox-Gastaut...
Epilepsy can affect employment for a variety of reasons. Many employers are reluctant to hire a person they know has epilepsy, even if the seizures are...
Nebojša; Romac, Stanka (2016-05-02). "Genetics of Lafora progressive myoclonicepilepsy: current perspectives". The Application of Clinical Genetics. 9: 49–53...
simple partial seizures, complex partial seizures, and myoclonic seizures. In juvenilemyoclonicepilepsy, it is a second-line therapy, reserved for when the...
generalized, myoclonic, or absence seizures. Epilepsy syndromes characterized by repeated reflex seizures are known as reflex epilepsies. Photosensitive...
Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions"...
phenotype of ataxia and seizures similar to juvenilemyoclonicepilepsy. In fact, juvenilemyoclonicepilepsy and EA5 are allelic and produce proteins with...
Molecule Editor applet jMonkeyEngine, a Java scenegraph API Juvenilemyoclonicepilepsy, a neurological disease This disambiguation page lists articles...
evidence for an association of the connexin-36 gene with juvenilemyoclonicepilepsy". Epilepsy Res. 71 (2–3): 223–8. doi:10.1016/j.eplepsyres.2006.06.021...
Berlin, Germany twice. Leyland suffers from a form of epilepsy called 'JuvenileMyoclonicEpilepsy' which she has been battling with since her early teens...
PMID 8125298. Liu AW, Delgado-Escueta AV, Gee MN, et al. (1996). "Juvenilemyoclonicepilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations"...
States on March 12, 2010. Ivy is a college student suffering from juvenilemyoclonicepilepsy, who has returned home to Brooklyn for spring break. While she...
EFHC2 on Xp11.4: tentative evidence for association with juvenilemyoclonicepilepsy". Epilepsy Research. 66 (1–3): 91–8. doi:10.1016/j.eplepsyres.2005...
on the other hand, initially presents as generalized tonic-clonic or myoclonic seizures beginning at around 2–3 years of age; following this is depressed...
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