Clinical management of epileptic encephalopathies of childhood and infancy

References

• Covanis A. Epileptic encephalopathies (including severe epilepsy syndromes). Epilepsia 2012;53(Suppl 4):114-26
   Google Scholar
• Marsh ED, Brooks-Kayal AR, Porter BE. Seizures and antiepileptic drugs: does exposure alter normal brain development? Epilepsia 2006;47:1999-2010
   PubMed Web of Science ®Google Scholar
• Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology. 2005Epilepsia 2010;51(4):676-85
   Google Scholar
• Engel J Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796-803
   PubMed Web of Science ®Google Scholar
• Engel J Jr. Report of the ILAE Classification Core Group. Epilepsia 2006;47:1558-68
   PubMed Web of Science ®Google Scholar
• Capovilla G, Wolf P, Beccaria F, Avanzini G. The history of the concept of epileptic encephalopathy. Epilepsia 2013;54(Suppl 8):2-5
   Google Scholar
• Cohen I, Navarro V, Clemenceau S, et al. On the origin of interictal activity in human temporal lobe epilepsy in vitro. Science 2002;298:1418-21
   PubMed Web of Science ®Google Scholar
• Holmes GL, Ben-Ari Y. A single episode of neonatal seizures permanently alters glutaminergic synapses. Ann Neurol 2007;61:379-81
   Google Scholar
• Covanis A, Theodorou V, Skiadas K, et al. Prognosis of symptomatic infantile spasms. The effect of vigabatrin. Brain Dev 1998b;20:525 EpiT
   Google Scholar
• McTague A, Cross HJ. Treatment of epileptic encephalopathies. CNS Drugs 2013;27:175-84
   PubMed Web of Science ®Google Scholar
• Mastrangelo M, Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012;46:24-31
   Google Scholar
• Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010;3:36
   Google Scholar
• Holland KD, Hallinan BE. What causes epileptic encephalopathy in infancy? The answer may lie in our genes. Neurology 2010;75:1132-3
   Google Scholar
• Jiao J, Yang Y, Shi Y, et al. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum Mol Genet 2013;22(21):4241-52
   Google Scholar
• Higurashi N, Uchida T, Hirose S, Okano H. Current trends in Dravet syndrome research. Neurol Neurophysiol 2013;4:3-5
   Google Scholar
• Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. In: Roger J, Bureau M, Dravet CH, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. 4th edition. John Libbey & Company; London, UK: 2005. p. 39-50
   Google Scholar
• Djukic A, Lado FA, Shinnar S, Moshe S. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res 2006;70(Suppl):68-76
   Google Scholar
• Beal JC, Cherian K, Moshe SL. Early- onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol 2012;47:317-23
   PubMed Web of Science ®Google Scholar
• Hirose M, Haginoya K, Yokoyama H, et al. Functional cortical deafferentation from subcortical structures in patient with early myoclonic encephalopathy: a functional neuroimaging study. Epilepsia 2010;51(4):699-702
   Google Scholar
• Kato M, Saitoh S, Kamei A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361-6
   Google Scholar
• Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010;51(12):2397-405
   PubMed Web of Science ®Google Scholar
• Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia 2011;52(10):1828-34
   PubMed Web of Science ®Google Scholar
• Mastrangelo M, Peron A, Spaccini L, et al. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. Epileptic Disord 2013;15(1):55-61
   Google Scholar
• Kato M, Koyama N Ohta M, Miura K, Hayasaka K. Frameshift mutations of the ARX gene in familial Ohtahara syndrome. Epilepsia 2010;51(9):1679-84
   Google Scholar
• Saitsu H, Kato M, Osaka H, et al. CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 2012;53(8):1441-9
   Google Scholar
• Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012;71:15-25
   PubMed Web of Science ®Google Scholar
• Ohtahara S, Yamatogi Y. Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 2006;70(Suppl 1):S58-67
   Google Scholar
• Backx L, Ceulemans B, Vermeesch JR, et al. Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet 2009;17:378-82
   Google Scholar
• Nakano K, Kobayashi K, Maniwa S, et al. Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. Epileptic Disord 2013;15(3):352-7
   Google Scholar
• Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia 2009;50(Suppl 5):49-51
   Google Scholar
• Chien YH, Lin MI, Weng WC, et al. Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. J Formos Med Assoc 2012;111:290-4
   Google Scholar
• McTague A, Appleton R, Avula A, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 2013;136:1578-91
   PubMed Web of Science ®Google Scholar
• Jocic-Jakubi B, Lagae L. Malignant migrating partial seizures in Aicardi syndrome. Dev Med Child Neurol 2008;50:790-2
   Google Scholar
• Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011;77:380-3
   Google Scholar
• Lee EH, Yum MS, Jeong MH, et al. A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev 2012;34:768-72
   Google Scholar
• Fasulo L, Saucedo S, Caceres L, et al. Migrating focal seizures during infancy: a case report and pathologic study. Pediatr Neurol 2012;46:182-4
   Google Scholar
• Freilich ER, Jones JM, Gaillard WD, et al. Novel SCN1A mutation in a probing with malignant migrating partial seizures of infancy. Arch Neurol 2011;68:665-71
   Google Scholar
• Poduri A, Chopra SS, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012;53(8):e146-50
   Google Scholar
• Riikonen R. West syndrome. In: Nikanorova M, Genton P, Sabers A, editors. Topics in epilepsy: long-term evolution of epileptic encephalopathies. John Libbey, Eurotext; London, UK: 2009. p. 13-28
   Google Scholar
• Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: AU.S. Consensus report. Epilepsia 2010;51(10):2175-89
   PubMed Web of Science ®Google Scholar
• Corff CF, Nordli DR. West syndrome. In: Panayiotopoulos CP, editor. Atlas of Epilepsies. Springer-Verlag; London, UK: 2010. p. 847-50
   Google Scholar
• Paciorkowski AR, Thio LL, Dobyns B. A genetic and biologic classification of infantile spasms. Pediatr Neurol 2011;45(6):355-67
   PubMed Web of Science ®Google Scholar
• Baumann A-M, Mühlenhoff M, et al. West syndrome caused by ST3 Gal-III deficiency. Epilepsia 2013;e24-7
   Google Scholar
• Auvin S, Lamblin MD, Bouvet-Mourcia A, et al. Infantile epileptic encephalopathy with late-onset spasms: a report of 19 patients. Epilepsia 2010;51(7):1290-6
   Google Scholar
• Tuxhorn I. Epileptic spasms. In: Wyllie E, editor. Treatment of epilepsy. Walters Kluwer; Philadelphia, PA, USA: 2011. p. 216-26
   Google Scholar
• Ramgopal S, Shah A, Zarowski M, et al. Diurnal and sleep/wake patterns of epileptic spasms in different age groups. Epilepsia 2012;53(7):1170-7
   Google Scholar
• Panayiotopoulos CP. West syndrome. In: Panayiotopoulos CP, editor. A clinical guide to epileptic syndromes and their treatment. Springer-Healthcare Ltd; 2010. p. 276-83
   Google Scholar
• Caraballo RH, Capovilla G, Vigevano F, et al. The spectrum of benign myoclonus of early infancy: clinical and neurophysiologic features in 102 patients. Epilepsia 2009;50:1176-83
   Google Scholar
• Gümüs H, Kumandas S, Per H. Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome. Pediatr Neurol 2007;37:350-3
   PubMed Web of Science ®Google Scholar
• Panayiotopoulos CP. Dravet syndrome. In: Panayiotopoulos CP, editor. A clinical guide to epileptic syndromes and their treatment. Springer-Healthcare Ltd; 2010. p. 283-7
   Google Scholar
• Striano P, de Jonghe P, Zara F. Genetic epileptic encephalopathies: is all written into the DNA? Epilepsia 2013;54: Suppl 8 22-6
   PubMed Web of Science ®Google Scholar
• Covanis A. Update on Dravet syndrome. Dev Med Child Neurol 2010;53(Suppl 2): v-vi
   Google Scholar
• Bureau M, Dala Bernardina B. Electroencephalographic characteristics of Dravet syndrome. Epilepsia 2011;52(Suppl 2):13-23
   Google Scholar
• Dravet C. Dravet syndrome history. Dev Med Child Neurol 2010;53(Suppl 2):1-6
   Google Scholar
• Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011;52(Suppl 2):3-9
   PubMedGoogle Scholar
• Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia 2011;52(Suppl 2):24-9
   PubMed Web of Science ®Google Scholar
• Guerrini R, Cellini E, Mei D, et al. Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene. Epilepsia 2010;51:2474-7
   Google Scholar
• Suls A, Velizarova R, Yordanova I, et al. Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. Neurology 2010;75:72-6
   Google Scholar
• Carranza Rojo D, Hamiwka L, Mc Mahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011;77:380-3
   Google Scholar
• Depienne C, Trouillard O, Bouteiller D, et al. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 2011;32:E1959-75
   Google Scholar
• Chiron C. Current therapeutic procedures in Dravet syndrome. Dev Med Child Neurol 2010;53(Suppl 2):16-18
   Google Scholar
• Chiron C, Dulac O. The therapeutic treatment of Davet syndrome. Epilepsia 2011;52(Suppl 2):72-5
   PubMedGoogle Scholar
• Wirrell EC, Laux L, Franz DN, et al. Stiripentol in Dravet syndrome: results of a retrospective U.S. study. Epilepsia 2013;54(9):1595-604
   PubMed Web of Science ®Google Scholar
• Caraballo RH. Nonpharmacologic treatments of Dravet syndrome: focus on the ketogenic diet. Epilepsia 2011;52(Suppl 2):79-82
   PubMed Web of Science ®Google Scholar
• Laux L, Blackford R. The ketogenic diet in Dravet syndrome. J Child Neurol 2013;28(8):1041-4
   PubMed Web of Science ®Google Scholar
• Jiao J, Yang Y, Shi Y, et al. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum Mol Genet 2013;22(21):4241-52
   Google Scholar
• Higurashi N, Uchida T, Hirose S, Okano H. Current trends in Dravet syndrome research. Neurol Neurophysiol 2013;4:3-5
   Google Scholar
• Sakauchi M, Oguni H, Kato I, et al. Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia 2011;52:1144-9
   PubMed Web of Science ®Google Scholar
• Genton P, Velizarova R, Dravet C. Dravet syndrome: the long term outcome. Epilepsia 2011;52(Suppl 2):44-9
   Google Scholar
• Panayiotopoulos CP. A clinical guide to epileptic syndromes and their treatment. Revised (2nd edition) Springer; London, UK: 2010. p. 313-15
   Google Scholar
• Ellia M. Myoclonic status in nonprogressive encephalopathies: an update. Epilepsia 2009;50(Suppl 5):41-4
   Google Scholar
• Caraballo RH, Cersosimo RO, Espeche A, et al. Myoclonic status in nonprogressive encephalopathies: study of 29 cases. Epilepsia 2007;48:107-13
   PubMed Web of Science ®Google Scholar
• Covanis A. Landau-Kleffner syndrome. In: Panayiotopoulos CP, editor. Atlas of Epilepsies. volume 2 Springer-Verlag; London, UK: 2010. p. 905-11
   Google Scholar
• Tassinari CA, Cantalupo G, Rios-Pohl L, et al. Encephalopathy with status epilepticus during slow sleep: ”The Penelope syndrome”. Epilepsia 2009;50(Suppl 7):4-8
   Web of Science ®Google Scholar
• Fejerman N. Atypical rolandic epilepsy. Epilepsia 2009;50(Suppl 7):9-12
   Google Scholar
• Panayiotopoulos CP. Landau-Kleffner syndrome. In: Panayiotopoulos CP, editor. A clinical guide to epileptic syndromes and their treatment. Springer-Healthcare Ltd; 2010. p. 303-9
   Google Scholar
• Fernández IS, Chapman KE, Peters JM, et al. Continuous spikes and waves during sleep: Electroclinical presentations and suggestions for management. Epilepsy Research and Treatment, 2013, Article ID 583531, 12 pages. http://dx.doi.org/10.1155/2013/583531
   Google Scholar
• Cross JH, Neville BGR. The surgical treatment of Landau-Kleffner syndrome. Epilepsia 2009;50(Suppl 7):63-7
   PubMedGoogle Scholar
• Moosa A, Loddenkemper T, Wyllie E. Epilepsy surgery for congenital or early lesions. In: Cataltepe O, Jallo G, editors. Pediatric epilepsy surgery: preoperative assessment and surgical intervention. Thieme Medical Publishers; NY, USA: 2010. p. 14-23
   Google Scholar
• Peltola ME, Liukkonen E, Granström M-L, et al. The effect of surgery in encephalopathy with electrical status epilepticus during sleep. Epilepsia 2011;52(3):602-9
   Google Scholar
• Hancock EC, Cross HJ; for the Cochrane Collaboration. Treatment of Lennox-Gastaut syndrome (Review). Cochrane Database Syst Rev 2009;4:1-39
   Google Scholar
• Genton P, Dravet C. Lennox-Gastaut syndrome. In: Engel J, Pedley TA, Aicardi J, Mash S, editors. Epilepsy: a comprehensive textbook. Lippincot Williams&Wilkings, NY, USA; 2007. p. 2417-27
   Google Scholar
• Badawy RAB, Macdonell RAL, Vogrin SJ, et al. Cortical excitability decreases in Lennox-Gastaut syndrome. Epilepsia 2012;53(9):1546-53
   Google Scholar
• Siniatchkin M, Coropceanu D, Moeller F, et al. EEG-fMRI reveals activation of brainstem and thalamus in patients with Lennox-Gastaut syndrome. Epilepsia 2011;52(4):766-74
   Google Scholar
• Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol 2009;8(1):82-93
   PubMed Web of Science ®Google Scholar
• Crumrine PK. Management of seizures in Lennox-Gastaut syndrome. Pediatric Drugs 2011;13(2):107-18
   Google Scholar
• Lemmon ME, Terao NN, Kossoff EH, et al. Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution’s experience and summary of the literature. Dev Med Child Neurol 2012;54(5):464-8
   PubMed Web of Science ®Google Scholar
• Lancman G, Virk M, Shao H, et al. Vagus nerve stimulation vs corpus callosotomy in the treatment of Lennox-Gastaut syndrome: a meta-analysis. Seizure 2013;22(1):3-8
   PubMed Web of Science ®Google Scholar
• You SJ, Kang HC, Ko TS, et al. Comparison of corpus callosotomy and vagus nerve stimulation in children with Lennox-Gastaut syndrome. Brain Dev 2008;30(3):195-9
   PubMed Web of Science ®Google Scholar
• De Tiège X, Goldman S, Van Bogaert P. Insights into the pathophysiology of psychomotor regression in CSWS syndromes from FDG-PET and EEG-fMRI. Epilepsia 2009;50(Suppl 7):47-50
   Google Scholar