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Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues Volume 16, special issue 1, October 2014

  • [Aicardi et al., 1993-2013] Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. GeneReviews™. Seattle (WA): University of Washington, 1993-2013.
  • [Barcia et al., 2012] Barcia G., Fleming M.R., Deligniere A. gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255-1259. De novo
  • [Beal et al., 2012] Beal J.C., Cherian K., Moshé S.L. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol. 2012;47:317-323.
  • [Beran, 2008] Beran R.G. An alternative perspective on the management of status epilepticus. Epilepsy Behav. 2008;12:349-353.
  • [Berg et al., 1990] Berg A.T., Shinnar S., Hauser W.A., Leventhal J.M. Predictors of recurrent febrile seizures: a metaanalytic review. J Pediatr. 1990;116:329-337.
  • [Berg et al., 2004] Berg A.T., Shinnar S., Testa F.M. Status epilepticus after the initial diagnosis of epilepsy in children. Neurology. 2004;63:1027-1034.
  • [Bien and Elger, 2008] Bien C.G., Elger C.E. Epilepsia partialis continua: semiology and differential diagnoses. Epileptic Disord. 2008;10:3-7. 10.1684/epd.2008.0161
  • [Bien et al., 2005] Bien C.G., Granata T., Antozzi C. Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. Brain. 2005;128:454-471.
  • [Brophy et al., 2012] Brophy G.M., Bell R., Claassen J. Guidelines for the evaluation and management of status epilepticus. Neurocrit Care. 2012;17:3-23.
  • [Carvill et al., 2013] Carvill G.L., Heavin S.B., Yendle S.C. Targeted resequencing in epileptic encephalopathies identifies mutations in and . Nat Genet. 2013;45:825-830. de novoCHD2SYNGAP1
  • [Castillo et al., 2006] Castillo P., Woodruff B., Caselli R. Steroid-responsive encephalopathy associated with autoimmune thyroiditis. Arch Neurol. 2006;63:197-202.
  • [Cockerell et al., 1996] Cockerell O.C., Rothwell J., Thompson P.D. Clinical and physiological features of epilepsia partialis continua. Cases ascertained in the UK. Brain. 1996;119:393-407.
  • [Coppola, 2009] Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009;50:49-51.
  • [Dalla Bernadina et al., 2002] Dalla Bernadina B, Sgrò V, Fejerman N. Epilepsy with centro-temporal spikes and related syndromes. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari C, Wolf P. Epileptic syndromes in infancy, childhood and adolescence. Third edition. London: John Libbey & Co Ltd, 2002: 181-202.
  • [Davis and Dalmau, 2013] Davis R., Dalmau J. Autoimmunity, seizures, and status epilepticus. Epilepsia. 2013;54:46-49.
  • [Dimassi et al., 2014] Dimassi S., Labalme A., Lesca G. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including and . Epilepsia. 2014;55:370-378. GRIN2APRRT2
  • [Epi4K Consortium et al., 2013] Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen A.S. mutations in epileptic encephalopathies. Nature. 2013;501:217-221. De novo
  • [Guerrini and Parrini, 2012] Guerrini R., Parrini E. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia. 2012;53:2067-2078.
  • [Hahn, 2000] Hahn A. Atypical benign partial epilepsy/pseudo-Lennox-syndrome. Epileptic Disord. 2000;2:S11-S17.
  • [Hahn et al., 2007] Hahn A., Heckel M., Neubauer B.A. Pronounced microcephaly in a patient with malignant migrating partial seizures in infancy. Epileptic Disord. 2007;9:94-97.
  • [Hesdorffer et al., 2013] Hesdorffer D.C., Shinnar S., Lewis D.V. Consequences of Prolonged Febrile Seizures in Childhood (FEBSTAT) Study Team. Risk factors for febrile status epilepticus: a case-control study. J Pediatr. 2013;163:1147-1151.
  • [Huang et al., 2012] Huang X., Tian M., Hernandez C.C. The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. Neurobiol Dis. 2012;48:115-123.
  • [Jirsch and Hirsch, 2007] Jirsch J., Hirsch L.J. Nonconvulsive seizures: developing a rational approach to the diagnosis and management in the critically ill population. Clin Neurophysiol. 2007;118:1660-1670.
  • [Jurecka et al., 2008] Jurecka A., Zikanova M., Tylki-Szymanska A. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab. 2008;94:435-442.
  • [Lancaster et al., 2010] Lancaster E., Lai M., Peng X. Antibodies to the GABA(B) receptor in limbic encephalitis with seizures: case series and characterisation of the antigen. Lancet Neurol. 2010;9:67-76.
  • [Lemke et al., 2013] Lemke, Lal D., Reinthaler E.M., Steiner I. Mutations in cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;45:1067-1072. GRIN2A
  • [Lesca et al., 2013] Lesca G., Rudolf G., Bruneau N. mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013;45:1061-1066. GRIN2A
  • [Mikati et al., 2013] Mikati A.G., Abu Gheida I., Shamseddine A., Mikati M.A., Karam P.E. Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. Epileptic Disord. 2013;15:407-416. 10.1684/epd.2013.0609
  • [Mirzaa et al., 2013] Mirzaa G.M., Paciorkowski A.R., Marsh E.D. CDKL5: Patients usually present with atypical West syndrome, Rett syndrome with early onset epilepsy, or less specifiable epileptic encephalopathies. Pediatr Neurol. 2013;48:367-377.
  • [Nabbout, 2013] Nabbout R. FIRES and IHHE: Delineation of the syndromes. Epilepsia. 2013;54:54-56.
  • [Nabbout et al., 2011] Nabbout R., Vezzani A., Dulac O., Chiron C. Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol. 2011;10:99-108.
  • [Ohtahara and Yamatogi, 2003] Ohtahara S., Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20:398-407.
  • [Oliveira et al., 2013] Oliveira R., Pereira C., Rodrigues F. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. Epileptic Disord. 2013;15:400-406. 10.1684/epd.2013.0610
  • [Paciorkowski et al., 2011] Paciorkowski A.R., Thio L.L., Dobyns W.B. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011;45:355-367.
  • [Pavone et al., 2012] Pavone P., Spalice A., Polizzi A. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev. 2012;34:459-468.
  • [Plouin et al., 1993] Plouin P., Dulac O., Jalin C., Chiron C. Twenty-four-hour ambulatory EEG monitoring in infantile spasms. Epilepsia. 1993;34:686-691.
  • [Poduri et al., 2012] Poduri A., Chopra S.S., Neilan E.G. Homozygous deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012;53:e146-e150. PLCB1
  • [Saitsu et al., 2010] Saitsu H., Tohyama J., Kumada T. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010;86:881-891.
  • [Shen et al., 2010] Shen J., Gilmore E.C., Marshall C.A. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010;42:245-249.
  • [Shinnar, 2007] Shinnar S. Who is at risk for prolonged seizures? J Child Neurol 2007 May;22 (5 Suppl):S14S-20.
  • [Shinnar et al., 1990] Shinnar S., Berg A.T., Moshé S.L. Risk of seizure recurrence following a first unprovoked seizure in childhood: a prospective study. Pediatrics. 1990;85:1076-1085.
  • [Shinnar et al., 1996] Shinnar S., Berg A.T., Moshé S.L. The risk of seizure recurrence after a first unprovoked afebrile seizure in childhood: an extended follow-up. Pediatrics. 1996;98:216-225.
  • [Shinnar et al., 2000] Shinnar S., Berg A.T., O’Dell C. Predictors of multiple seizures in a cohort of children prospectively followed from the time of their first unprovoked seizure. Ann Neurol. 2000;48:140-147.
  • [Shinnar et al., 2001] Shinnar S., Pellock J.M., Berg A.T. Short-term outcomes of children with febrile status epilepticus. Epilepsia. 2001;42:47-53.
  • [Sillanpää and Shinnar, 2002] Sillanpää M., Shinnar S. Status epilepticus in a population-based cohort with childhood-onset epilepsy in Finland. Ann Neurol. 2002;52:303-310.
  • [Steinfeld et al., 2009] Steinfeld R., Grapp M., Kraetzner R. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009;85:354-363.
  • [Suls et al., 2013] Suls A., Jaehn J.A., Kecskés A. loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013;93:967-975. De novo
  • [van Baalen et al., 2010] van Baalen A., Häusler M., Boor R. Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia. 2010;51:1323-1328.
  • [Van Bogaert et al., 2007] Van Bogaert P., Azizieh R., Désir J. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol. 2007;61:579-586.
  • [Weckhuysen et al., 2013] Weckhuysen S., Ivanovic V., Hendrickx R. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81:1697-1703.
  • [Welcker et al., 2013] Welcker S., Grams A.E., Gizewski E.R. Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. Klin Padiatr. 2013;225:86-87.