Juvenile myoclonic epilepsy: Epidemiology, pathophysiology, and management

Pediatric Drugs

Volumn 8, Issue 5, 2006, Pages 303-310

  Welty, Timothy E ^a,b  

^a SAMFORD UNIVERSITY   (United States)

^b The University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BENZODIAZEPINE DERIVATIVE; BISPHOSPHONIC ACID DERIVATIVE; BROMINE DERIVATIVE; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; DIAZEPAM; ETIRACETAM; FELBAMATE; GABAPENTIN; LAMOTRIGINE; LORAZEPAM; MESUXIMIDE; STIRIPENTOL; SULTIAME; TIAGABINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

ALOPECIA; ATAXIA; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; COGNITIVE DEFECT; DIAGNOSTIC ERROR; DISEASE CLASSIFICATION; DISEASE EXACERBATION; DROWSINESS; DRUG HYPERSENSITIVITY; DRUG MECHANISM; DYSNOMIA; ELECTROENCEPHALOGRAM; FETUS MALFORMATION; GENE MUTATION; HUMAN; INCIDENCE; LANGUAGE DISABILITY; MENSTRUAL IRREGULARITY; MYOCLONUS EPILEPSY; NEPHROLITHIASIS; NEURAL TUBE DEFECT; OLIGOHYDROSIS; OSTEOPOROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RASH; REVIEW; SEIZURE; SIDE EFFECT; SWEAT GLAND DISEASE; TERATOGENICITY; TREMOR; UNSPECIFIED SIDE EFFECT; WEIGHT GAIN; WORD RECOGNITION; WORKING MEMORY;

ADOLESCENT; ANTICONVULSANTS; CHILD; HUMANS; MYOCLONIC EPILEPSY, JUVENILE; VALPROIC ACID;

EID: 33750201475     PISSN: 11745878     EISSN: 11745878     Source Type: Journal    
DOI: 10.2165/00148581-200608050-00003     Document Type: Review

References (91)

1. Eadie MJ. The epileptology of Theodore Herpin (1799-1865). Epilepsia 2002; 43 (10): 1256-61
2. International League Against Epilepsy. Epilepsy syndromes and related conditions [online]. Available from URL: http:\\www.ilae-epilepsy.org/visitors/ centre/ctf/syndromes.cfm [Accessed 2006 Sep 12]
3. Hauser WA, Annegers JF, Rocca WA. Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc 1996; 71 (6): 576-86
4. Genton P, Gelisse P. Juvenile myoclonic epilepsy. Arch Neurol 2001; 58 (9): 1487-90
5. Hauser WA. Epidemiology of epilepsy in children. In: Pellock JM, Dodson WE, Bourgeois FD, editors. Pediatric epilepsy diagnosis and treatment. New York: Demos, 2001: 81-96
6. Obeid T, Panayiotopoulos CP. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988; 29 (3): 280-2
7. Nair RR, Thomas SV. Genetic liability to epilepsy in Kerala State, India. Epilepsy Res 2004; 62 (2-3): 163-70
8. Liu AW, Delgador-Escueta AV, Gee MN, et al. Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. Am J Med Genet 1996; 63 (3): 438-46
9. Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66 (5): 1531-9
10. Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002; 31 (2): 184-9
11. Peters HC, Kammer G, Volz A, et al. Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. Neurogenetics 1998; 2 (1): 47-54
12. Haug K, Sander T, Hallmann K, et al. The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy. Neuroreport 2000; 11 (12): 2687-9
13. Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004; 36 (8): 842-9
14. Wong CG, Scherer SW, Snead 3rd OC, et al. Localization of the human mGluR4 gene within an epilepsy susceptibility locus (1). Brain Res Mol Brain Res 2001; 87 (1): 109-16
15. Vijai J, Kapoor A, Ravishankar HM, et al. Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. Hum Genet 2003; 113 (5): 461-3
16. Taske NL, Williamson MP, Makoff A, et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. Epilepsy Res 2002; 49 (2): 157-72
17. Bai D, Alonso ME, Medina MT, et al. Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet 2002; 113 (3): 268-74
18. Pal DK, Evgrafov DV, Tabares P, et al. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 2003; 73 (2): 261-70
19. Vijai J, Kapoor A, Ravishankar HM, et al. Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy. J Med Genet 2005; 42 (5): 439-42
20. Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 1985; 72 (5): 449-59
21. Dhanuka AK, Jain BK, Daljit S, et al. Juvenile myoclonic epilepsy: a clinical and sleep EEG study. Seizure 2001; 10 (5): 374-8
22. Penry JK, Dean JC, Riela AR. Juvenile myoclonic epilepsy: long-term response to therapy. Epilepsia 1989; 30 Suppl. 4: S19-23
23. Janz D, Christian W. Impulsiv-petit mal. Dtsch Z Nervenheilkd 1957; 176: 346-86
24. Castells B, Mendilaharsu C. La epilepsia mioclinica bilateral y consicente. Acta Neurol Latinoam 1958; 4: 23-48
25. Atakli D, Sozuer D, Atay T, et al. Misdiagnosis and treatment in juvenile myoclonic epilepsy. Seizure 1998; 7 (1): 63-6
26. Benbadis SR. Observations on the misdiagnosis of generalized epilepsy as partial epilepsy: causes and consequences. Seizure 1999; 8 (3): 140-5
27. Canevini MP, Mai R, Di Marco C, et al. Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients. Seizure 1992; 1 (4): 291-8
28. Montalenti E, Imperiale D, Rovera A, et al. Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients. J Neurol Sci 2001; 184 (1): 65-70
29. Appleton RM, Beirne M, Acomb B. Photosensitivity in juvenile myoclonic epilepsy. Seizure 2000; 9 (2): 108-11
30. Schmidt D, Gram L. A practical guide to when (and how) to withdraw antiepileptic drugs in seizure-free patients. Drugs 1996; 52 (6): 870-4
31. Specchio LM, Beghi E. Should antiepileptic drugs be withdrawn in seizure-free patients? CNS Drugs 2004; 18 (4): 201-12
32. Shinnar S, Berg AT, Moshe SL, et al. Discontinuing antiepileptic drugs in children with epilepsy: a prospective study. Ann Neurol 1994; 35 (5): 534-45
33. Calleja S, Salas-Puig J, Ribacoba R, et al. Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate. Seizure 2001; 10 (6): 424-7
34. Bourgeois B, Beaumanoir A, Blajev B, et al. Monotherapy with valproate in primary generalized epilepsies. Epilepsia 1987; 28 Suppl. 2: S8-11
35. Karlovassitou-Koniari A, Alexiou D, Angelopoulos P, et al. Low dose sodium valproate in the treatment of juvenile myoclonic epilepsy. J Neurol 2002; 249 (4): 396-9
36. Sundqvist AT, Tomson T, Lundkvist B. Valproate as monotherapy for juvenile myoclonic epilepsy: dose-effect study. Ther Drug Monit 1998; 20 (2): 149-57
37. Corman CL, Leung NM, Guberman AH. Weight gain in epileptic patients during treatment with valproic acid: a retrospective study. Can J Neurol Sci 1997; 24 (3): 240-4
38. Dinesen H, Gram L, Andersen T, et al. Weight gain during treatment with valproate. Acta Neurol Scand 1984; 70 (2): 65-9
39. Mattson RH, Cramer JA, Collins JF. A comparison of valproate with carbamazepine for the treatment of complex partial seizures and secondarily generalized tonic-clonic seizures in adults: the Department of Veterans Affairs Epilepsy Cooperative Study No. 264 Group. N Engl J Med 1992; 327 (11): 765-71
40. Isojarvi JI, Laatikainen TJ, Pakarinen AJ, et al. Polycystic ovaries and hyperandrogenism in women taking valproate for epilepsy. N Engl J Med 1993; 329 (19): 1383-8
41. O'Donovan C, Kusumakar V, Graves GR, et al. Menstrual abnormalities and polycystic ovary syndrome in women taking valproate for bipolar mood disorder. J Clin Psychiatry 2002; 63 (4): 322-30
42. Boluk A, Guzelipek M, Savli H, et al. The effect of valproate on bone mineral density in adult epileptic patients. Pharmacol Res 2004; 50 (1): 93-7
43. Sato Y, Kondo I, Ishida S, et al. Decreased bone mass and increased bone turnover with valproate therapy in adults with epilepsy. Neurology 2001; 57 (3): 445-9
44. Sheth RD, Wesolowski CA, Jacob JC, et al. Effect of carbamazepine and valproate on bone mineral density. J Pediatr 1995; 127: 256-62
45. Drezner MK. Treatment of anticonvulsant drug-induced bone disease. Epilepsy Behav 2004; 5 Suppl. 2: S41-7
46. Kulak CA, Borba VZ, Bilezikian JP, et al. Bone mineral density and serum levels of 25 OH vitamin D in chronic users of antiepileptic drugs. Arq Neuropsiquiatr 2004; 62 (4): 940-8
47. Thomas SV, Indrani L, Devi GC, et al. Pregnancy in women with epilepsy: preliminary results of Kerala registry of epilepsy and pregnancy. Neurol India 2001; 49 (1): 60-6
48. Vajda FJ, O'Brien TJ, Hitchcock A, et al. Critical relationship between sodium valproate dose and human teratogenicity: results of the Australian register of anti-epileptic drugs in pregnancy. J Clin Neurosci 2004; 11 (8): 854-8
49. Ethell BT, Anderson GD, Burchell B. The effect of valproic acid on drug and steroid glucuronidation by expressed human UDP-glucuronosyltransferases. Biochem Pharmacol 2003; 65 (9): 1441-9
50. Wen X, Wang JS, Kivisto KT, et al. In vitro evaluation of valproic acid as an inhibitor of human cytochrome P450 isoforms: preferential inhibition of cytochrome P450 2C9 (CYP2C9). Br J Clin Pharmacol 2001; 52 (5): 547-53
51. Anderson GD. A mechanistic approach to antiepileptic drug interactions. Ann Pharmacother 1998; 32 (5): 554-63
52. Gidal BE, Sheth R, Parnell J, et al. Evaluation of VPA dose and concentration effects on lamotrigine pharmacokinetics: implications for conversion to lamotrigine monotherapy. Epilepsy Res 2003; 57 (2-3): 85-93
53. Beran RG, Berkovic SF, Dunagan FM, et al. Double-blind, placebo-controlled, crossover study of lamotrigine in treatment-resistant generalised epilepsy. Epilepsia 1998; 39 (12): 1329-33
54. Morris GL, Hammer AE, Kustra RP, et al. Lamotrigine for patients with juvenile myoclonic epilepsy following prior treatment with valproate: results of an open-label study. Epilepsy Behav 2004; 5 (4): 509-12
55. Buchanan N. The use of lamotrigine in juvenile myoclonic epilepsy. Seizure 1996; 5 (2): 149-51
56. Prasad A, Kuzniecky RI, Knowlton RC, et al. Evolving antiepileptic drug treatment in juvenile myoclonic epilepsy. Arch Neurol 2003; 60 (8): 1100-5
57. Biraben A, Allain H, Scarabin JM, et al. Exacerbation of juvenile myoclonic epilepsy with lamotrigine [letter]. Neurology 2000; 55 (11): 1758
58. Carrazana EJ, Wheeler SD. Exacerbation of juvenile myoclonic epilepsy with lamotrigine. Neurology 2001; 56 (10): 1424-5
59. Welty TE, Kuzniecky RI, Faught E. Newer antiepileptic drug outcomes in juvenile myoclonic epilepsy patients [abstract]. Epilepsia 2004; 45 Suppl. 7: 145
60. Li LM, Russo M, O'Donoghue MF, et al. Allergic skin rash with lamotrigine and concomitant valproate therapy: evidence for an increased risk. Arq Neuropsiquiatr 1996; 54 (1): 47-9
61. Dooley J, Camfield P, Gordon K, et al. Lamotrigine-induced rash in children. Neurology 1996; 46 (1): 240-2
62. Guberman AH, Besag FM, Brodie MJ, et al. Lamotrigine-associated rash: risk/benefit considerations in adults and children. Epilepsia 1999; 40 (7): 985-91
63. Wheless JW. Use of topiramate in childhood generalized seizure disorders. J Child Neurol 2000; 15 Suppl. 1: S7-13
64. Ben-Zeev B, Watemberg N, Augarten A, et al. Oligohydrosis and hyperthermia: pilot study of a novel topiramate adverse effect. J Child Neurol 2003; 18 (4): 254-7
65. Lamb EJ, Stevens PE, Nashef L. Topiramate increases biochemical risk of nephrolithiasis. Ann Clin Biochem 2004; 41 (Pt 2): 166-9
66. Antai-Otong D. Mitigating cognitive side effects associated with topiramate. Perspect Psychiatr Care 2005; 41 (2): 92-3
67. Kockelmann E, Elger CE, Helmstaedter C. Cognitive profile of topiramate as compared with lamotrigine in epilepsy patients on antiepileptic drug polytherapy: relationships to blood serum levels and comedication. Epilepsy Behav 2004; 5 (5): 716-21
68. Yamauchi T, Aikawa H. Efficacy of zonisamide: our experience. Seizure 2004; 13 Suppl. 1: S41-8
69. Yagi K. Overview of Japanese experience: controlled and uncontrolled trials. Seizure 2004; 13 Suppl. 1: S11-5
70. Kothare SV, Valencia I, Khurana DS, et al. Efficacy and tolerability of zonisamide in juvenile myoclonic epilepsy. Epileptic Disord 2004; 6 (4): 267-70
71. Knudsen JF, Thambi LR, Kapcala LP, et al. Oligohydrosis and fever in pediatric patients treated with zonisamide. Pediatr Neurol 2003; 28: 184-9
72. Eisai Inc. Zonegran full prescribing information [online]. Available from URL: http:\\www.zonegran.com/utilities/pi.aspx [Accessed 2006 Sep 12]
73. Krauss GL, Betts T, Abou-Khalil B, et al. Levetiracetam treatment of idiopathic generalised epilepsy. Seizure 2003; 12 (8): 617-20
74. Kumar SP, Smith PE. Levetiracetam as add-on therapy in generalised epilepsies. Seizure 2004; 13 (7): 475-7
75. Cohen J. Levetiracetam monotherapy for primary generalised epilepsy. Seizure 2003; 12 (3): 150-3
76. Obeid T, Panayiotopoulos CP. Clonazepam in juvenile myoclonic epilepsy. Epilepsia 1989; 30 (5): 603-6
77. Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia 1994; 35 (2): 285-96
78. Lance JW, Anthony M. Sodium valproate and clonazepam in the treatment of intractable epilepsy. Arch Neurol 1977; 34 (1): 14-7
79. Mireles R, Leppik IE. Valproate and clonazepam comedication in patients with intractable epilepsy. Epilepsia 1985; 26 (2): 122-6
80. Specht U, Boenigk HE, Wolf P. Discontinuation of clonazepam after long-term treatment. Epilepsia 1989; 30 (4): 458-63
81. Wheless JW. Acute management of seizures in the syndromes of idiopathic generalized epilepsies. Epilepsia 2003; 44 Suppl. 2: 22-6
82. Murphy K, Delanty N. Primary generalized epilepsies. Curr Treat Options Neurol 2000; 2 (6): 527-42
83. Clobazam in treatment of refractory epilepsy: the Canadian experience: a retrospective study. Canadian Clobazam Cooperative Group. Epilepsia 1991; 32 (3): 407-16
84. Perez J, Chiron C, Musial C, et al. Stiripentol: efficacy and tolerability in children with epilepsy. Epilepsia 1999; 40 (11): 1618-26
85. Ernst JP, Doose H, Baier WK. Bromides were effective in intractable epilepsy with generalized tonic-clonic seizures and onset in early childhood. Brain Dev 1988; 10 (6): 385-8
86. Luna D, Dulac O, Pajot N, et al. Vigabatrin in the treatment of childhood epilepsies: a single-blind placebo-controlled study. Epilepsia 1989; 30 (4): 430-7
87. Hurst DL. Methsuximide therapy of juvenile myoclonic epilepsy. Seizure 1996; 5 (1): 47-50
88. Lerman P, Nussbaum E. The use of sulthiame: in myoclonic epilepsy of childhood and adolescence. Acta Neurol Scand Suppl 1975; 60: 7-12
89. Genton P, Gelisse P, Thomas P, et al. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology 2000; 55 (8): 1106-9
90. Perucca E, Gram L, Avanzini G, et al. Antiepileptic drugs as a cause of worsening seizures. Epilepsia 1998; 39 (1): 5-17
91. Genton P. When antiepileptic drugs aggravate epilepsy. Brain Dev 2000; 22 (2): 75-80