Retrospective analysis of juvenile myoclonic epilepsy in Xinjiang_Journal of Epilepsy

Authors：

JING ShiWen ,  YANG Jun , WU Chen , ZHANG Weiliang , REN Jun

Department of Neurology, General Hospital of Xinjiang Military Region, Urumqi 830000, China;

Corresponding author：

YANG Jun, Email: junyang0919@163.com

Keywords：

Epilepsy; juvenile myoclonic epilepsy; absence seizures; myoclonic jerks; generalized tonic clonic seizures

DOI：

10.7507/2096-0247.202112002

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Objective To retrospectively analyze the epidemiology, clinical characteristics and causes of misdiagnosis of Juvenile myoclonic epilepsy (JME) in Xinjiang Uygur Autonomous Region, so as to provide basis for improving the diagnosis and treatment of JME. Methods 979 patients with epilepsy in Xinjiang Uygur Autonomous Region were analyzed retrospectively. There.were515males and 464females,average.age(18.66+8.31)years,.The epidemiological characteristics of JME were analyzed. The clinical characteristics, EEG, treatment effect and prognosis of patients diagnosed with JME were analyzed. The causes of misdiagnosis, missed diagnosis and delayed treatment were analyzed. Results The proportion of JME in 979 patients with epilepsy was 1.4%, a total of 14 cases. The median age of onset was (15+5.83) years, the median time from onset to treatment was 3 years, and the median time from onset to diagnosis was 6 years. All patients showed myoclonic seizures, 13 cases were complicated with generalized tonic clonic seizures, and 4 cases were accompanied by absence seizures. EEG findings include normal background activity, 3-6 Hz generalized spikes or frontal dominant multiple spikes at the beginning of arousal. seven patients were treated with levetiracetam, and the other seven patients were treated with lamotrigine and / or sodium valproate. Incomplete collection of medical history and failure to describe the medical history in detail are the main reasons for delaying diagnosis. Conclusion Juvenile myoclonic epilepsy is an treatable disease, but it is easy to be misdiagnosed. The rate of misdiagnosis and missed diagnosis of JME in Xinjiang is higher, and the delay of diagnosis and treatment is longer. The inquiry of more detailed and demonstrative medical history is of great significance to improve the diagnostic accuracy.

Citation： JING ShiWen, YANG Jun, WU Chen, ZHANG Weiliang, REN Jun. Retrospective analysis of juvenile myoclonic epilepsy in Xinjiang. Journal of Epilepsy, 2022, 8(3): 222-226. doi: 10.7507/2096-0247.202112002 Copy

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2.	Baykan B, Wolf P, Dhamija K, et al. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review. Seizure, 2017, 49: 36-41.
3.	Brodie M. J, Cevik N, Raatikainen M. , et al. Modern management of juvenile myoclonic epilepsy. Expert Rev Neurother, 2016, 16(6): 681-8.
4.	Syvertsen M, Dhamija K, Senf P, et al. Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. Acta Neurologica Scandinavica, 2019, 139(2): 192-198.
5.	Striano P, Nobile C, Dedei DM, et al. The genetic basis of juvenile myoclonic epilepsy. Lancet Neurol, 2018, 17(6): 493-495.
6.	Dhamija K, Chaudhry N, Puri V, et al. Modulation of epileptiform EEG discharges in patients with JME. Seizure, 2018, 60: 139-143.
7.	Yacubian E. M, Cevik N, Duchaczek B, et al. Juvenile myoclonic epilepsy:Challenges on its 60th anniversary. Seizure, 2017, 44: 48-52.
8.	Tomson C, Nobile C, Tomson B, et al. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry. Lancet Neurol, 2018, 17(6): 530-538.
9.	Kapoor A, Johannessen L, Johannessen C, et al. An idiopathic epilepsy syndrome linked to 3q13. 3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol, 2008, 64(2): 158-167.
10.	Cossette P, Thomas RH, Stevelink R, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet, 2002, 31(2): 184-189.
11.	Zhang Y, Crespel A, Tabrizi N, et al. Clinical features and treatment outcomes of Juvenile myoclonic epilepsy patients. Epilepsia Open, 2019, 4(2): 302-308.
12.	Syvertsen MR, Dhamija K, Chaudhry N, et al. heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years. Seizure, 2014, 23(5): 344-348.
13.	Healy L, Ercegovac M, Guaranha M, et al. Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. Seizure, 2018, 59: 116-122.
14.	Cação G, Dedei D, Yacubian E, et al. Juvenile myoclonic, epilepsy refractory to treatment in a tertiary referral center. Epilepsy Behav, 2018, 82: 81-86.

1. Syvertsen M, Silvennoinen K, Senf P, et al. Prevalence of juvenile myoclonic epilepsy in people <30 years of age-a population-based study in Norway. Epilepsia, 2017, 58(1): 105-112.
2. Baykan B, Wolf P, Dhamija K, et al. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review. Seizure, 2017, 49: 36-41.
3. Brodie M. J, Cevik N, Raatikainen M. , et al. Modern management of juvenile myoclonic epilepsy. Expert Rev Neurother, 2016, 16(6): 681-8.
4. Syvertsen M, Dhamija K, Senf P, et al. Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. Acta Neurologica Scandinavica, 2019, 139(2): 192-198.
5. Striano P, Nobile C, Dedei DM, et al. The genetic basis of juvenile myoclonic epilepsy. Lancet Neurol, 2018, 17(6): 493-495.
6. Dhamija K, Chaudhry N, Puri V, et al. Modulation of epileptiform EEG discharges in patients with JME. Seizure, 2018, 60: 139-143.
7. Yacubian E. M, Cevik N, Duchaczek B, et al. Juvenile myoclonic epilepsy:Challenges on its 60th anniversary. Seizure, 2017, 44: 48-52.
8. Tomson C, Nobile C, Tomson B, et al. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry. Lancet Neurol, 2018, 17(6): 530-538.
9. Kapoor A, Johannessen L, Johannessen C, et al. An idiopathic epilepsy syndrome linked to 3q13. 3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol, 2008, 64(2): 158-167.
10. Cossette P, Thomas RH, Stevelink R, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet, 2002, 31(2): 184-189.
11. Zhang Y, Crespel A, Tabrizi N, et al. Clinical features and treatment outcomes of Juvenile myoclonic epilepsy patients. Epilepsia Open, 2019, 4(2): 302-308.
12. Syvertsen MR, Dhamija K, Chaudhry N, et al. heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years. Seizure, 2014, 23(5): 344-348.
13. Healy L, Ercegovac M, Guaranha M, et al. Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. Seizure, 2018, 59: 116-122.
14. Cação G, Dedei D, Yacubian E, et al. Juvenile myoclonic, epilepsy refractory to treatment in a tertiary referral center. Epilepsy Behav, 2018, 82: 81-86.

Journal of Epilepsy

Retrospective analysis of juvenile myoclonic epilepsy in Xinjiang

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