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==Cause==
==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.<ref>{{Cite journal |last=Koepp |first=Matthias J |last2=Thomas |first2=Rhys H |last3=Wandschneider |first3=Britta |last4=Berkovic |first4=Samuel F |last5=Schmidt |first5=Dieter |date=2014-06-14 |title=Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy |url=http://dx.doi.org/10.1586/14737175.2014.928203 |journal=Expert Review of Neurotherapeutics |volume=14 |issue=7 |pages=819–831 |doi=10.1586/14737175.2014.928203 |issn=1473-7175}}</ref> Thus far seven genes and over 20 chromosomal loci have been implicated in the pathogenesis of JME.<ref>{{Cite journal |last=Striano |first=Pasquale |last2=Nobile |first2=Carlo |date=2018-06 |title=The genetic basis of juvenile myoclonic epilepsy |url=https://pubmed.ncbi.nlm.nih.gov/29778354 |journal=The Lancet. Neurology |volume=17 |issue=6 |pages=493–495 |doi=10.1016/S1474-4422(18)30173-X |issn=1474-4465 |pmid=29778354}}</ref> A minority of cases are caused by single genes and are inherited in an autosomal dominant fashion.<ref>{{Cite journal |last=Delgado-Escueta |first=Antonio V. |date=2007-05 |title=Advances in genetics of juvenile myoclonic epilepsies |url=https://pubmed.ncbi.nlm.nih.gov/17520076 |journal=Epilepsy Currents |volume=7 |issue=3 |pages=61–67 |doi=10.1111/j.1535-7511.2007.00171.x |issn=1535-7597 |pmc=1874323 |pmid=17520076}}</ref> The majority of the genes which have been associated with JME encode for ion channel subunits.<ref>{{Cite journal |last=Santos |first=Bruna Priscila Dos |last2=Marinho |first2=Chiara Rachel Maciel |last3=Marques |first3=Thalita Ewellyn Batista Sales |last4=Angelo |first4=Layanne Kelly Gomes |last5=Malta |first5=Maísa Vieira da Silva |last6=Duzzioni |first6=Marcelo |last7=Castro |first7=Olagide Wagner de |last8=Leite |first8=João Pereira |last9=Barbosa |first9=Fabiano Timbó |last10=Gitaí |first10=Daniel Leite Góes |date=2017 |title=Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies |url=https://pubmed.ncbi.nlm.nih.gov/28636645 |journal=PloS One |volume=12 |issue=6 |pages=e0179629 |doi=10.1371/journal.pone.0179629 |issn=1932-6203 |pmc=5479548 |pmid=28636645}}</ref> 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.<ref>{{Cite journal |last=Bailey |first=Julia N. |last2=de Nijs |first2=Laurence |last3=Bai |first3=Dongsheng |last4=Suzuki |first4=Toshimitsu |last5=Miyamoto |first5=Hiroyuki |last6=Tanaka |first6=Miyabi |last7=Patterson |first7=Christopher |last8=Lin |first8=Yu-Chen |last9=Medina |first9=Marco T. |last10=Alonso |first10=María E. |last11=Serratosa |first11=José M. |last12=Durón |first12=Reyna M. |last13=Nguyen |first13=Viet H. |last14=Wight |first14=Jenny E. |last15=Martínez-Juárez |first15=Iris E. |date=2018-03-15 |title=Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy |url=https://pubmed.ncbi.nlm.nih.gov/29539279 |journal=The New England Journal of Medicine |volume=378 |issue=11 |pages=1018–1028 |doi=10.1056/NEJMoa1700175 |issn=1533-4406 |pmid=29539279}}</ref> Another gene that is associated with JME called EFHC1 has similar functions.<ref name="denijs2012" /> These findings may explain subtle structural and functional brain abnormalities that are seen in patients with JME.<ref>{{Cite journal |last=Gilsoul |first=Maxime |last2=Grisar |first2=Thierry |last3=Delgado-Escueta |first3=Antonio V. |last4=de Nijs |first4=Laurence |last5=Lakaye |first5=Bernard |date=2019-09-27 |title=Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy |url=http://dx.doi.org/10.3389/fncel.2019.00433 |journal=Frontiers in Cellular Neuroscience |volume=13 |doi=10.3389/fncel.2019.00433 |issn=1662-5102}}</ref> Given the genetic and clinical heterogeneity of JME some authors have  suggested that it should be thought of as a spectrum disorder.
Juvenile myoclonic epilepsy is an inherited genetic syndrome, but the way in which this disorder is inherited is unclear. Frequently (17-49%) those with JME have relatives with a history of epileptic seizures. There is also a higher rate of females showing JME symptoms than males.<ref name=camfield2013/> The majority of JME cases have an onset in early childhood to puberty.<ref name=pana1994/> The six genes BRD2, CASR, GABRA1, GABRD, EFHC1, and ICK are considered major vulnerable alleles for JME.<ref name="pmid31611775" />


==Pathophysiology==
==Pathophysiology==

Revision as of 16:16, 18 August 2022

Juvenile myoclonic epilepsy
Other namesJanz syndrome
SpecialtyNeurology

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of genetic generalized epilepsy (previously known as idiopathic generalized epilepsy),[1] representing 5-10% of all epilepsy cases.[2][3][4] This disorder typically first presents between the ages of 12 and 18 with myoclonic seizure manifesting as sudden brief involuntary single or multiple episodes of muscle(s) contractions caused by an abnormal excessive or synchronous neuronal activity in the brain.[5] These events typically occur after awakening from sleep, during the evening or upon sleep deprivation. JME is also characterized by generalized tonic-clonic seizures and a minority also have absence seizures.[6] The genetics of JME are complex and rapidly evolving as over 20 chromosomal loci and multiple genes have been identified thus far.[7]

Epidemiology

The prevalence of JME is approximately 0.1-0.2 per 100,000 and constitutes approximately 5-10% of all epilepsies.[8] Some studies suggest that JME is slightly more common in females than males.[9] The onset of symptoms ranges between the ages of 8 and 36 years and has a peak between the ages of 12 and 18 years.[3] Approximately 15% of children with childhood absence epilepsy and juvenile absence epilepsy subsequently develop JME.[10] In most cases, myoclonic jerks precede the first generalized tonic-clonic seizure by a mean of 3.3 years.[11] A long-term population-based study suggested that at 25 years from seizure onset all seizure types in JME resolved in 17% and in 13% only myoclonus remained despite discontinuing medication. Thus, disabling seizures resolve in around one-third of patients.[9]

Signs and symptoms

There are three seizures types which may occur in JME including myoclonus, generalized tonic-clonic seizures and absence seizures. Myoclonic status epilepticus may occur but it is uncommon. Approximately one-third of patients have all three seizure types.[12] The majority of patients (58.2%) have frequent myoclonic jerks and uncommon generalized tonic-clonic seizures.[12] Absence seizures are believed to be the least common with studies estimating a prevalence of 10% to as high as 38%.[12][13]

Patient’s typically initially present to medical providers following their first generalized tonic-clonic seizure. It is often subsequently reported that the patient was having myoclonus for several years prior. The first generalized tonic-clonic seizure usually occurs in the context of a particular provoking factor such as sleep deprivation, stress or alcohol consumption.[14] There are other potential provoking factors such as praxis induction which refers to the precipitation of seizures or epileptiform discharges in the context of a complex cognitive tasks.[15] Patients with JME tend to perform worse on neuropsychological assessments in all cognitive domains and are also more likely to have psychiatric comorbidities such as depression and anxiety when compared to control populations.[16][17][18] Yet, in one study the majority of patients with JME reported satisfaction with their health, work, friendships and social life.[9]

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.[19] Thus far seven genes and over 20 chromosomal loci have been implicated in the pathogenesis of JME.[20] A minority of cases are caused by single genes and are inherited in an autosomal dominant fashion.[21] The majority of the genes which have been associated with JME encode for ion channel subunits.[22] 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.[23] Another gene that is associated with JME called EFHC1 has similar functions.[24] These findings may explain subtle structural and functional brain abnormalities that are seen in patients with JME.[25] Given the genetic and clinical heterogeneity of JME some authors have  suggested that it should be thought of as a spectrum disorder.

Pathophysiology

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.[26] In mice, a naturally occurring null mutation leads to the "lethargic" phenotype. This is characterized by ataxia and lethargic behavior at early stages of development followed within days by the onset of both focal motor seizures as well as episodes of behavioral immobility which correlates with patterns of cortical spike and wave discharges at the EEG[27] A premature-termination mutation R482X was identified in a patient with JME while an additional missense mutation C104F was identified in a German family with generalized epilepsy and praxis – induced seizures.[28]

The R482X mutation results in increased current amplitudes and an accelerated fast time constant of inactivation.[29] Whether these modest functional differences may be in charge of JME remains to be established.[29] Calcium channel β4 subunit (CACNB4) is not strictly considered a putative JME gene because its mutation did not segregate in affected family members, and it was found in only one member of a JME family from Germany, and it has not been replicated.[30]

GABRA1

GABRA1 is a gene that encodes for an α subunit of the GABA A receptor protein, which encodes one of the major inhibitory neurotransmitter receptors. There is one known mutation in this gene that is associated with JME, A322D, which is located in the third segment of the protein[31]/sub>. This missense mutation results in channels with reduced peak GABA-evoked currents.[32] Furthermore, the presence of such mutation alters the composition and reduces the expression of wild-type GABAA receptors.[32]

GABRD

GABRD encodes the δ subunit of the GABA receptor, which is an important constituent of the GABAA receptor mediating tonic inhibition in neurons (extrasynaptic GABA receptors, i.e. receptors that are localized outside of the synapse).[33] Among the mutations that have been reported in this in this gene, one (R220H) has been identified in a small family with JME. This mutation affects GABAergic transmission by altering the surface expression of the receptor as well as reducing the channel – opening duration.

Myoclonin1/EFHC1

The final known associated gene is EFHC1. Myoclonin1/EFHC1 encodes for a protein that has been known to play a wide range ofwild-typeom cell division, neuroblast migration and synapse/dendrite formation. EFHC1 is expressed in many tissues, including the brain, where it is localized to the soma and dendrites of neurons, particularly the hippocampal CA1 region, pyramidal neurons in the cerebral cortex, and Purkinje cells in the cerebellum.[24]

There are four JME-causing mutations discovered (D210N, R221H, F229L and D253Y). The mutations do not seem to alter the ability of the protein to colocalize with centrosomes and mitotic spindles but induce mitotic spindle defects. Moreover, the mutations impact radial and tangential migration during brain development.[24] As such a theory has been put forward that JME may be the result of a brain developmental disorder.[24]

Other loci

Three SNP alleles in BRD2, Cx-36 and ME2 and microdeletions in 15q13.3, 15q11.2 and 16p.13.11 also contribute risk to JME.[34]

Diagnosis

Diagnosis is typically made based on patient history. The physical examination is usually normal. The primary diagnosis for JME is a good knowledge of patient history and the neurologist's familiarity with the myoclonic jerks, which are the hallmark of the syndrome.[35] Additionally, an electroencephalogram (EEG), will indicate a characteristic pattern of waves and spikes associated with the syndrome such as generalized 4–6 Hz polyspike and slow wave discharges. These discharges may be evoked by photic stimulation (blinking lights) and/or hyperventilation.

Both a magnetic resonance imaging scan (MRI) and computed tomography scan (CT scan) generally appear normal in JME patients. However a number of quantitative MRI studies have reported focal or regional abnormalities of the subcortical and cortical grey matter, particularly the thalamus and frontal cortex, in JME patients.[36] Positron emission tomography reports in some patients may indicate local deviations in many transmitter systems.[37]

Management

The most effective anti-epileptic medication for JME is valproic acid (Depakote).[38][11]

Due to valproic acid's high incidence of fetal malformations,[39][38] women of child-bearing age are started on alternative medications such as Lamotrigine, levetiracetam. Carbamazepine may aggravate genetic generalized epilepsies and as such its use should be avoided in JME. Treatment is lifelong. However, recent follow-up researches on a subgroup of patients showed them becoming seizure-free and off anti-epileptic drugs in due course of time.[40][41][42] This makes this dogma questionable. Patients should be warned to avoid sleep deprivation.

History

The first citation of JME was made in 1857 when Théodore Herpin described a 13-year-old boy with myoclonic jerks, which progressed to tonic-clonic seizures three months later.[43] In 1957, Janz and Christian published a journal article describing several patients with JME.[44] The name Juvenile Myoclonic Epilepsy was proposed in 1975 and adopted by the International League Against Epilepsy.[43]

Culture

Stand-up comedian Maisie Adam has JME and her award-winning show "Vague" (2018) discussed it.[45]

The 2018 documentary film Separating The Strains dealt with the use of CBD oil to treat symptoms of JME.[46] Currently, no scientific evidence exist to support the use of CBD oil to treat symptoms of JME.

See also

References

  1. ^ 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.
  2. ^ Panayiotopoulos CP, Obeid T, Tahan AR (1994). "Juvenile myoclonic epilepsy: a 5-year prospective study". Epilepsia. 35 (2): 285–296. doi:10.1111/j.1528-1157.1994.tb02432.x. PMID 8156946. S2CID 2840926.
  3. ^ a b Camfield CS, Striano P, Camfield PR (1 July 2013). "Epidemiology of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S15–S17. doi:10.1016/j.yebeh.2012.06.024. PMID 23756473. S2CID 27904623.
  4. ^ 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.
  5. ^ 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.
  6. ^ 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.
  7. ^ Striano, Pasquale; Nobile, Carlo (2018-06-01). "The genetic basis of juvenile myoclonic epilepsy". The Lancet. Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354.
  8. ^ Jallon, Pierre; Latour, Patrick (2005). "Epidemiology of idiopathic generalized epilepsies". Epilepsia. 46 Suppl 9: 10–14. doi:10.1111/j.1528-1167.2005.00309.x. ISSN 0013-9580. PMID 16302871.
  9. ^ a b c Camfield, Carol S.; Camfield, Peter R. (2009-09-29). "Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study". Neurology. 73 (13): 1041–1045. doi:10.1212/WNL.0b013e3181b9c86f. ISSN 1526-632X. PMID 19786695.
  10. ^ Wirrell, E. C.; Camfield, C. S.; Camfield, P. R.; Gordon, K. E.; Dooley, J. M. (1996-10-01). "Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy". Neurology. 47 (4): 912–918. doi:10.1212/wnl.47.4.912. ISSN 0028-3878.
  11. ^ a b Yacubian EM (1 January 2017). "Juvenile myoclonic epilepsy: Challenges on its 60th anniversary". Seizure. 44: 48–52. doi:10.1016/j.seizure.2016.09.005. PMID 27665373. S2CID 4930675.
  12. ^ a b c Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G. A.; Medina, Marco Tulio; Salas-Puig, Javier (2013-07-01). "Clinical aspects of juvenile myoclonic epilepsy". Epilepsy & Behavior: E&B. 28 Suppl 1: S8–14. doi:10.1016/j.yebeh.2012.10.034. ISSN 1525-5069. PMID 23756488.
  13. ^ Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134.
  14. ^ Pedersen, S. B.; Petersen, K. A. (2009-01-29). "Juvenile myoclonic epilepsy: clinical and EEG features". Acta Neurologica Scandinavica. 97 (3): 160–163. doi:10.1111/j.1600-0404.1998.tb00630.x. ISSN 0001-6314. PMID 9531431.
  15. ^ Uchida, Carina Gonçalves Pedroso; de Carvalho, Kelly Cristina; Guaranha, Mirian Salvadori Bittar; Guilhoto, Laura Maria Figueiredo F.; de Araújo Filho, Gerardo Maria; Wolf, Peter; Yacubian, Elza Márcia Targas (2015-11-01). "Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis". Seizure. 32: 62–68. doi:10.1016/j.seizure.2015.09.011. ISSN 1532-2688. PMID 26552565.
  16. ^ Almane, Dace N.; Jones, Jana E.; McMillan, Taylor; Stafstrom, Carl E.; Hsu, David A.; Seidenberg, Michael; Hermann, Bruce P.; Oyegbile, Temitayo O. (2019-12-01). "The Timing, Nature, and Range of Neurobehavioral Comorbidities in Juvenile Myoclonic Epilepsy". Pediatric Neurology. 101: 47–52. doi:10.1016/j.pediatrneurol.2019.03.011. ISSN 0887-8994.
  17. ^ de Araujo Filho, Gerardo Maria; Yacubian, Elza Márcia Targas (2013-07-01). "Juvenile myoclonic epilepsy: Psychiatric comorbidity and impact on outcome". Epilepsy & Behavior. 28: S74–S80. doi:10.1016/j.yebeh.2013.03.026. ISSN 1525-5050.
  18. ^ Pascalicchio, Tatiana Frascareli; de Araujo Filho, Gerardo M.; da Silva Noffs, Maria Helena; Lin, Katia; Caboclo, Luís Otávio S.F.; Vidal-Dourado, Marcos; Ferreira Guilhoto, Laura M.F.; Yacubian, Elza Márcia Targas (2007-03-01). "Neuropsychological profile of patients with juvenile myoclonic epilepsy: A controlled study of 50 patients". Epilepsy & Behavior. 10 (2): 263–267. doi:10.1016/j.yebeh.2006.11.012. ISSN 1525-5050.
  19. ^ Koepp, Matthias J; Thomas, Rhys H; Wandschneider, Britta; Berkovic, Samuel F; Schmidt, Dieter (2014-06-14). "Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy". Expert Review of Neurotherapeutics. 14 (7): 819–831. doi:10.1586/14737175.2014.928203. ISSN 1473-7175.
  20. ^ Striano, Pasquale; Nobile, Carlo (2018-06). "The genetic basis of juvenile myoclonic epilepsy". The Lancet. Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354. {{cite journal}}: Check date values in: |date= (help)
  21. ^ Delgado-Escueta, Antonio V. (2007-05). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. ISSN 1535-7597. PMC 1874323. PMID 17520076. {{cite journal}}: Check date values in: |date= (help)
  22. ^ Santos, Bruna Priscila Dos; Marinho, Chiara Rachel Maciel; Marques, Thalita Ewellyn Batista Sales; Angelo, Layanne Kelly Gomes; Malta, Maísa Vieira da Silva; Duzzioni, Marcelo; Castro, Olagide Wagner de; Leite, João Pereira; Barbosa, Fabiano Timbó; Gitaí, Daniel Leite Góes (2017). "Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies". PloS One. 12 (6): e0179629. doi:10.1371/journal.pone.0179629. ISSN 1932-6203. PMC 5479548. PMID 28636645.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  23. ^ Bailey, Julia N.; de Nijs, Laurence; Bai, Dongsheng; Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Tanaka, Miyabi; Patterson, Christopher; Lin, Yu-Chen; Medina, Marco T.; Alonso, María E.; Serratosa, José M.; Durón, Reyna M.; Nguyen, Viet H.; Wight, Jenny E.; Martínez-Juárez, Iris E. (2018-03-15). "Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy". The New England Journal of Medicine. 378 (11): 1018–1028. doi:10.1056/NEJMoa1700175. ISSN 1533-4406. PMID 29539279.
  24. ^ a b c d de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B (December 2012). "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development". Human Molecular Genetics. 21 (23): 5106–5117. doi:10.1093/hmg/dds356. PMC 3490517. PMID 22926142.
  25. ^ Gilsoul, Maxime; Grisar, Thierry; Delgado-Escueta, Antonio V.; de Nijs, Laurence; Lakaye, Bernard (2019-09-27). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13. doi:10.3389/fncel.2019.00433. ISSN 1662-5102.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  26. ^ Buraei Z, Yang J (October 2010). "The ß subunit of voltage-gated Ca2+ channels". Physiological Reviews. 90 (4): 1461–1506. doi:10.1152/physrev.00057.2009. PMC 4353500. PMID 20959621.
  27. ^ Burgess DL, Jones JM, Meisler MH, Noebels JL (February 1997). "Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse". Cell. 88 (3): 385–392. doi:10.1016/S0092-8674(00)81877-2. PMID 9039265.
  28. ^ Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, et al. (May 2000). "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". American Journal of Human Genetics. 66 (5): 1531–1539. doi:10.1086/302909. PMC 1378014. PMID 10762541.
  29. ^ a b Etemad S, Campiglio M, Obermair GJ, Flucher BE (2014). "The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells". Channels. 8 (4): 334–343. doi:10.4161/chan.29322. PMC 4203735. PMID 24875574.
  30. ^ Delgado-Escueta AV (2007). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076.
  31. ^ Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. (June 2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nature Genetics. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
  32. ^ a b Macdonald RL, Kang JQ, Gallagher MJ (2012). "GABAA Receptor Subunit Mutations and Genetic Epilepsies". In Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV (eds.). Jasper's Basic Mechanisms of the Epilepsies [Internet] (4th ed.). National Center for Biotechnology Information (US). PMID 22787601.
  33. ^ Hirose S (2014). "Mutant GABAA receptor subunits in genetic (Idiopathic) epilepsy". Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Progress in Brain Research. Vol. 213. pp. 55–85. doi:10.1016/B978-0-444-63326-2.00003-X. ISBN 9780444633262. PMID 25194483.
  34. ^ Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM (July 2013). "The quest for juvenile myoclonic epilepsy genes". Epilepsy & Behavior. 28 (Suppl 1): S52–S57. doi:10.1016/j.yebeh.2012.06.033. PMID 23756480. S2CID 1159871.
  35. ^ Grünewald RA, Chroni E, Panayiotopoulos CP (June 1992). "Delayed diagnosis of juvenile myoclonic epilepsy". Journal of Neurology, Neurosurgery, and Psychiatry. 55 (6): 497–499. doi:10.1136/jnnp.55.6.497. PMC 1014908. PMID 1619419.
  36. ^ Kim JH (December 2017). "Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review". Journal of Epilepsy Research. 7 (2): 77–88. doi:10.14581/jer.17013. PMC 5767493. PMID 29344465.
  37. ^ Koepp MJ, Woermann F, Savic I, Wandschneider B (July 2013). "Juvenile myoclonic epilepsy--neuroimaging findings". Epilepsy & Behavior. Juvenile Myoclonic Epilepsy: What is it Really?. 28 (Suppl 1): S40–S44. doi:10.1016/j.yebeh.2012.06.035. PMID 23756478. S2CID 21360686.
  38. ^ a b Tomson T, Battino D, Perucca E (February 2016). "Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug". The Lancet. Neurology. 15 (2): 210–218. doi:10.1016/S1474-4422(15)00314-2. PMID 26655849. S2CID 29434414.
  39. ^ Tomson T, Marson A, Boon P, Canevini MP, Covanis A, Gaily E, et al. (July 2015). "Valproate in the treatment of epilepsy in girls and women of childbearing potential". Epilepsia. 56 (7): 1006–1019. doi:10.1111/epi.13021. PMID 25851171.
  40. ^ Baykan B, Altindag EA, Bebek N, Ozturk AY, Aslantas B, Gurses C, et al. (May 2008). "Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy". Neurology. 70 (22 Pt 2): 2123–2129. doi:10.1212/01.wnl.0000313148.34629.1d. PMID 18505992. S2CID 28743237.
  41. ^ Geithner J, Schneider F, Wang Z, Berneiser J, Herzer R, Kessler C, Runge U (August 2012). "Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up". Epilepsia. 53 (8): 1379–1386. doi:10.1111/j.1528-1167.2012.03526.x. PMID 22686598. S2CID 13521080.
  42. ^ Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E (May 2014). "Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years". Seizure. 23 (5): 344–348. doi:10.1016/j.seizure.2014.01.012. PMID 24512779. S2CID 14722826.
  43. ^ a b Juvenile Myoclonic Epilepsy at eMedicine
  44. ^ Janz D, Christian W (1994). "Impulsive petit mal". In Malafosse A (ed.). Idiopathic Generalized Epilepsies: Clinical, Experimental and Genetic Aspects. pp. 229–51. ISBN 978-0-86196-436-9.
  45. ^ "Comedian Maisie Adam shares her experiences growing up with epilepsy in her new show Vague Epilepsy Action". www.epilepsy.org.uk.
  46. ^ "Cannabis documentary about epilepsy to foster more understanding". 2018-06-13.
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