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“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings

By Pasquale Parisi, Alberto Spalice, Francesco Nicita, Laura Papetti, Fabiana Ursitti, Alberto Verrotti, Paola Iannetti and Maria Pia Villa


There is growing interest in the diagnosis of cognitive impairment among children with epilepsy. It is well known that status of seizures control has to be carefully investigated because it can be sufficient “per se” to cause progressive mental deterioration conditions. Subclinical electroencephalographic discharges may have subtle effects on cognition, learning and sleep patterns, even in the absence of clinical or sub-clinical seizures. In this respect, electroencephalographic monitoring (long-term and nocturnal recording) and in particular an all night video-polysomnography (V-NPSG) record can be crucial to detect the presence of unrecognized seizures and/or an inter-ictal nocturnal EEG discharge increasing. Epileptic encephalopathies (EE) are a group of conditions in which the higher cognitive functions are deteriorate as a consequence of epileptic activity, which, in fact, consists of frequent seizures and/or florid and prolonged interictal paroxysmal discharges, focal or generalized. AEDs represent the first line in opposing the burden of both, the poor seizures control and the poor interictal discharges control, in the cognitive deterioration of EE affected children. Thus, to improve the long-term cognitive/behavioural prognosis in these refractory epileptic children, it should be taken into account both a good seizures control and a strict sleep control, choosing carefully antiepileptic drugs which are able to control not only seizures clinically recognizable but even the EEG discharges onset and its increasing and spreading during sleep. Here, we review the efficacy and safety of the newer AEDs that, to date, are used in the treatment of EE in infancy and childhood

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  1. (1998). A case of Ohtahara syndrome with cytochrome oxydase deficiency.
  2. (2007). A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
  3. (2007). A new generation of anticonvulsants for the treatment of epilepsy in children. Paediatr. Child Health,
  4. (2001). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy:
  5. (2009). A retrospective study on aetiology based outcome of infantile spasms. Seizure,
  6. (2003). Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res.,
  7. (2009). Addition of verapamil in the treatment of severe myoclonic epilepsy of infancy. Epilepsy Res.,
  8. (2005). Aggravation of epilepsy by antiepileptic drugs. Pediatric Neurol.,
  9. (2007). An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology,
  10. (2008). An unexpected EEG course in Dravet syndrome. Epilepsy Res.,
  11. (1982). Atypical benign partial epilepsy of childhood.
  12. (2000). Atypical evolutions of benign localization-related epilepsies in children: are they predictable? Epilepsia,
  13. (2006). Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy. Epilesia,
  14. (1998). Benign myoclonic epilepsy in infants: video-EEG features and long-term follow-up. Neuropediatrics,
  15. (2007). Brain MRI findings in severe myoclonic epilepsy in infancy and genotypephenotype correlations. Epilepsia,
  16. Catastrophic epilepsy in childhood.
  17. (1972). Childhood epileptic encephalopathy with slow spike-wave. A statistical study of 80 cases. Epilepsia,
  18. (2005). Clinical and EEG study on idiopathic partial epilepsies with evolution into ESES spectrum disorders. Epilepsia,
  19. (2009). Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
  20. (2006). Cognition and paroxysmal EEG activities: from a single spike to electrical status epilepticus during sleep. Epilepsia,
  21. (1999). Cognitive development in benign focal epilepsies of childhood.
  22. (2002). Cognitive epilepsy: ADHD related to focal EEG discharges.
  23. (1989). Commission on classification and terminology of the ILAE. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia,
  24. (2007). Current role of Vigabatrin in infantile spasms.
  25. (2007). Current treatment of myoclonic astatic epilepsy:clinical experience at the children’s hospital of Philadelphia. Epilepsia,
  26. (2009). Current trends in the treatment of infantile spasms.
  27. (2008). De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
  28. (2010). De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
  29. (2009). De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
  30. (2007). Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients.
  31. (2009). Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev.,
  32. (2006). Dravet syndrome: a study of 53 patients. Epilepsy Res.,
  33. (1997). Early infantile epileptic encephalopathy and glycine encephalopathy.
  34. (2010). Early Infantile Epileptic Encephalopathy with Burst-Suppression: Ohtahara syndrome.
  35. (2002). Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. Brain Dev.,
  36. (1991). Effect of early corticosteroid therapy for Landau-Kleffner syndrome: case report.
  37. (1995). Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved. No To Hattatsu,
  38. (1990). Effectiveness of TRH analog in a case of early infantile epileptic encephalopathy. No To Hattatsu,
  39. (2005). Efficacy and safety of rufinamide adjunctive therapy in patients with Lennox-Gastaut syndrome (LGS): a multicenter, randomized, double-blind, placebo-controlled, parallel trial. Neurology,
  40. (2006). Efficacy of very high dose steroid treatment in a case of Landau-Kleffner syndrome.
  41. (2009). Encephalopathy with status epilepticus during slow sleep: "The Penelope syndrome". Epilepsia,
  42. (1998). Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients.
  43. (2006). Epilepsy in children. Lancet,
  44. (2003). Epileptic Encephalopathies in Early Infancy With Suppression-Burst.
  45. (2003). Epileptic encephalopathies of childhood.
  46. (2003). Epileptic encephalopathies with myoclonic seizures in infant and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).
  47. (2003). Epileptic Encephalopathies: a brief overview.
  48. (2001). Epileptic encephalopathies. Epilepsia,
  49. (2007). Epileptic encephalopathy in infancy and early childhood. In: Panayiotopoulos, C.P. A clinical guide to epileptic syndromes and their treatment. 2 nd ed. London:
  50. (2003). Epileptic encephalopathy of late childhood. Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-waves sleep.
  51. (2008). Epileptic syndromes in infancy and childhood.
  52. (1977). Excessive 7-14-sec positive spikes during REM sleep in monozygotic non-epileptic twins with speech retardation.
  53. (2003). Familial severe myoclonic epilepsy of infancy: truncation of
  54. (2006). Felbamate: consensus of current clinical experience. Epilepsy Res.,
  55. (2002). Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology,
  56. (1997). Genetic factors in epilepsies with primary generalized minor seizures. Neuropediatrics,
  57. (2001). ILAE Commission Report. A Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy:
  58. (2005). Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly. Seizure,
  59. (2003). Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West Syndrome).
  60. (1987). Interactions of epileptiform EEG discharges and cognition. Epilepsy Res.,
  61. (2007). Intravenous immunoglobulins in refractory childhoodonset epilepsy: effects on seizure frequency, EEG activity, and cerebrospinal fluid cytokine profile. Epilepsia,
  62. (2009). Ketogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood.
  63. (2006). Ketogenic diet in patients with myoclonic-astatic epilepsy. Epileptic Disord.,
  64. (1997). Lamotrigine adjunctive therapy in childhood epileptic encephalopathy (the Lennox Gastaut syndrome). Epilepsia,
  65. (2009). Landau-Kleffner syndrome and CSWS syndrome: treatment with intravenous immunoglobulins. Epilepsia,
  66. (2009). Landau-Kleffner syndrome: long-term follow-up. Brain Dev.,
  67. (2008). Lennox gastaut syndrome, review of the literature and a case report. Head Face Med.,
  68. (2003). Lennox-Gastaut Syndrome (childhood epileptic encephalopathy).
  69. (2009). Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol.,
  70. (2007). Levetiracetam monotherapy in newly diagnosed cryptogenic West Syndrome.
  71. (1998). Liposteroid therapy in a case of early infantile epileptic encephalopathy with suppression burst. No To Hattatsu,
  72. (2002). Medical treatement of patients with infantile spasms.
  73. (1991). Methosuximide for intractable childhood seizures. Pediatrics,
  74. (2009). Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin.
  75. (2006). Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of "severe epilepsy with multiple independent spike foci". Epilepsy Res.,
  76. (1992). Myoclonic astatic epilepsy of early childhood.
  77. (1982). Myoclonic epilepsies in childhood. In: Akimoto,
  78. (2005). Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia,
  79. (1989). Neuroepidemiological study of childhood epilepsy by application of international classification of epilepsies and epileptic syndromes (ILAE,
  80. (2007). neurological correlates and health-related quality of life in severe pediatric epilepsy. Epilepsia,
  81. (2007). Neuropsychological deficits in childhood epilepsy syndromes.
  82. (2006). Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). Epilepsia,
  83. (2008). New antiepileptic drugs in pediatric epilepsy. Brain Dev.,
  84. (2009). News on the horizon is not good: Interictal epileptic discharges continue to be unaffected by the therapeutic level of AEDs.
  85. (2004). Nonpharmacologic treatment of the catastrophic epilepsies of childhood. Epilepsia,
  86. (2006). Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res.,
  87. (2007). Panayiotopoulos CP. A clinical guide to epileptic syndromes and their treatment. 2 nd ed. London:Sprinter,
  88. (1988). Paradoxical precipitation of tonic seizures by lorazepam in child with atypical absence seizures.
  89. (2004). Pharmacologic treatment of the catastrophic epilepsies. Epilepsia,
  90. Rolandic epilepsy: neuropsychology of the active epilepsy phase.
  91. (2006). Role of interictal epileptiform abnormalities in cognitive impairment. Epilepsy Behav.,
  92. (2007). Rufinamide: a new-antiepileptic medication.
  93. (2002). Severe myoclonic epilepsy in infancy (Dravet syndrome).
  94. (2008). Severe myoclonic epilepsy in infancy: a systematic review and a metaanalysis of individual patient. Epilepsia,
  95. (1992). Severe myoclonic epilepsy in infants.
  96. (2004). Severe myoclonic epilepsy of infancy: toward an optimal treatment.
  97. (2006). Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural History and Neuropsychological Findings. Epilepsia,
  98. (2002). Severe neonatal epilepsies with suppressionburst pattern.
  99. (2003). Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology,
  100. (2003). Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology,
  101. (1998). Spike-induced interference in auditory sensory processing in Landau-Kleffner syndrome.
  102. (2009). Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females. Plos Genetic,
  103. (2000). Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndromededicated trial. STICLO study group. Lancet,
  104. (2002). Successful treatment of Ohtahara syndrome with chloral hydrate.
  105. (2000). Suppression-burst patterns in intractable epilepsy with focal cortical dysplasia. Brain Dev.,
  106. (2001). Surgical treatment of early-infantile epileptic encephalopathy with suppressionbursts associated with focal cortical dysplasia. Brain Dev.,
  107. (1987). The earlyinfantile epileptic encephalopathy with suppression-burst: developmental aspects. Brain Dev.,
  108. (2005). The efficacy and side effects of topiramate on refractory epilepsy in infants and young children: a multicenter clinical trial. Seizures,
  109. (2010). The relationship between sleep and epilepsy: the effect on cognitive functioning in children.
  110. (2000). The spectrum of neuropsychiatric abnormalities associated with electrical status epilepticus in sleep. Brain Dev.,
  111. (2000). The treatment of West syndrome: a Cochrane review of the literature to
  112. (1987). Therapeutic effect of ACTH and gamma-globulin in 8 cases with the earlyinfantile epileptic encephalopathy with suppression-burst (EIEE). Shonika Rinsho,
  113. (2002). Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res.,
  114. (2003). Topiramate: efficacy and tolerability in children according to epilepsy syndromes. Epilepsy Res.,
  115. (2002). Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood.
  116. (2009). Treatment of infantile spasms.
  117. (1998). Treatment of Lennox-Gastaut syndrome: current recommendations. CNS Drugs,
  118. Treatment of Lennox-Gastaut syndrome: overview and recent findings.
  119. (1997). Use of lamotrigine in Lennox-Gastaut and related epilepsy syndromes.
  120. (2001). Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). Brain Dev.,
  121. (2000). Vigabatrin as a first choice drug in the treatment of west syndrome.
  122. (2009). Zonisamide block of cloned human T-type voltagegated calcium channels. Epilepsy Res.,
  123. (2001). Zonisamide in West syndrome. Brain Dev.,
  124. (2000). Zonisamide treatment of early infantile epileptic encephalopathy.