Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology

Epilepsia Open

Volumn 1, Issue 1-2, 2016, Pages 37-44

  Scheffer, Ingrid E ^a,b,c   French, Jacqueline ^d   Hirsch, Edouard ^e,f   Jain, Satish ^g   Mathern, Gary W ^h   Moshé, Solomon L ⁱ   Perucca, Emilio ^j   Tomson, Torbjorn ^k   Wiebe, Samuel ^l   Zhang, Yue Hua ^m   Zuberi, Sameer M ^n,o  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b AUSTIN HEALTH   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^f Hospices Civils de Lyon   (France)

^g Indian Epilepsy Centre   (India)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^j UNIVERSITY OF PAVIA   (Italy)

^k KAROLINSKA INSTITUTE   (Sweden)

^l UNIVERSITY OF CALGARY   (Canada)

^m PEKING UNIVERSITY FIRST HOSPITAL   (China)

ⁿ ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^o UNIVERSITY OF GLASGOW   (United Kingdom)

more..

Author keywords

Classification; Epilepsy syndromes; Etiology; Terminology

Indexed keywords

EID: 84994410485     PISSN: None     EISSN: 24709239     Source Type: Journal    
DOI: 10.1002/epi4.5     Document Type: Article

References (35)

1. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–399.
2. Epilepsy ILAE. Guidelines for publications from league commissions and task forces. 2014. Available at: http://www.ilae.org/visitors/centre/guidelines.cfm. Accessed March 28, 2016.
3. Berg AT, Berkovic SF, Brodie M, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010;51:676–685.
4. Berg AT, Scheffer IE. New concepts in classification of the epilepsies: entering the 21st century. Epilepsia 2011;52:1058–1062.
5. Fisher RS, Helen Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy. 2016. Available at: http://www.ilae.org/Visitors/Centre/documents/ClassificationSeizureILAE-2016.pdf. Accessed July 7, 2016.
6. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013;45:825–830.
7. Thomas RH, Zhang LM, Carvill GL, et al. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology 2015;84:951–958.
8. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012;71:15–25.
9. Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40:782–788.
10. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327–1332.
11. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479–490.
12. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343–345.
13. Mullen SA, Marini C, Suls A, et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 2011;68:1152–1155.
14. Arsov T, Mullen SA, Rogers S, et al. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 2012;72:807–815.
15. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703–709.
16. Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012;44:1255–1259.
17. Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol 2014;75:581–590.
18. Bearden D, Strong A, Ehnot J, et al. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol 2014;76:457–461.
19. Mikati M, Jiang J, Carboni M, et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol 2015;78:995–999.
20. Holmes GL, Stafstrom CE, Group TSS. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia 2007;48:617–630.
21. Krueger DA, Wilfong AA, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol 2013;74:679–687.
22. Scheffer IE, Turner SJ, Dibbens LM, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 2008;131:918–927.
23. Lennox W. Sixty-six twin pairs affected by seizures. Res Publ Assoc Res Nerv Ment Dis 1947;26:11–34.
24. Berkovic S, Howell A, Hay D, et al. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998;43:435–445.
25. Vadlamudi L, Milne R, Lawrence KM, et al. The testimony of twins in the molecular era. Neurology 2014;83:1042–1048.
26. Jallon P, Loiseau P, Loiseau J. Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Réseau Observatoire Longitudinal de l’ Epilepsie. Epilepsia 2001;42:464–475.
27. McTague A, Howell KB, Cross H, et al. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol 2016;15:304–316.
28. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004;75:1079–1093.
29. Jehi L, Wylie E, Devinsky O. Epileptic encephalopathies: optimizing seizure control and developmental outcome. Epilepsia 2015;56:1486–1489.
30. Korff C, Brunklaus A, Zuberi S. Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome. Epilepsia 2015;56:1477–1481.
31. Kamiya K, Kaneda M, Sugawara T, et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004;24:2690–2698.
32. Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 2015;85:958–966.
33. Staden UE, Isaacs E, Boyd SG, et al. Language dysfunction in children with Rolandic epilepsy. Neuropediatrics 1998;29:242–248.
34. Lillywhite LM, Saling MM, Harvey AS, et al. Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS. Epilepsia 2009;50:2276–2284.
35. Wirrell EC, Camfield CS, Camfield PR, et al. Long-term psychosocial outcome in typical absence epilepsy. Sometimes a wolf in sheep's clothing. Arch Pediatr Adolesc Med 1997;151:152–158.