Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis

Epilepsy and Behavior - Tập 22 - Trang 735-739 - 2011
Raffaella Cusmai1, Romina Moavero2, Roberta Bombardieri2, Federico Vigevano1, Paolo Curatolo2
1Division of Neurology, Bambino Gesù Children’s Hospital, Rome, Italy
2Pediatric Neurology Unit, Neuroscience Department, University Hospital of Tor Vergata, Rome, Italy

Tài liệu tham khảo

Curatolo, 2008, Tuberous sclerosis, Lancet, 372, 657, 10.1016/S0140-6736(08)61279-9 Chu-Shore, 2010, The natural history of epilepsy in tuberous sclerosis complex, Epilepsia, 51, 1236, 10.1111/j.1528-1167.2009.02474.x Jozwiak, 2000, Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients, J Child Neurol, 15, 652, 10.1177/088307380001501003 Curatolo, 2005, Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment, J Child Neurol, 20, 318, 10.1177/08830738050200040901 Gomez, 1982, Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins, Neurology, 32, 604, 10.1212/WNL.32.6.604 Joinson, 2003, Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex, Psychol Med, 33, 335, 10.1017/S0033291702007092 Zaroff, 2006, Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex, Seizure, 15, 558, 10.1016/j.seizure.2006.06.010 O'Callaghan, 2004, The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex, Arch Dis Child, 89, 530, 10.1136/adc.2003.026815 Jansen, 2008, Cognitive impairment in tuberous sclerosis complex is a multifactorial condition, Neurology, 70, 916, 10.1212/01.wnl.0000280579.04974.c0 Gomez, 1979 Muzykewicz, 2009, Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG, Epilepsia, 50, 290, 10.1111/j.1528-1167.2008.01788.x Hancock, 2003, Treatment of infantile spasms, Cochrane Database Syst Rev, 3, CD001770 Elterman, 2010, Vigabatrin for the treatment of infantile spasms: final report of a randomized trial, J Child Neurol, 25, 1340, 10.1177/0883073810365103 Hancock, 1999, Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review, J Child Neurol, 14, 71, 10.1177/088307389901400201 Jambaque, 2000, Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients, Epilepsy Res, 38, 151, 10.1016/S0920-1211(99)00082-0 Camposano, 2008, Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile, Epilepsia, 49, 1186, 10.1111/j.1528-1167.2008.01589.x Kwan, 2010, Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies, Epilepsia, 51, 1069, 10.1111/j.1528-1167.2009.02397.x Philippi, 2008, Electroencephalographic evolution of hypsarrhythmia: toward an early treatment option, Epilepsia, 49, 1859, 10.1111/j.1528-1167.2008.01715.x Moavero, 2010, Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges, Childs Nerv Syst, 26, 1495, 10.1007/s00381-010-1128-8 Jozwiak, 2011, Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex, Eur J Paediatr Neurol, 15, 424, 10.1016/j.ejpn.2011.03.010 Cusmai, 1990, Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis, Epilepsia, 31, 747, 10.1111/j.1528-1157.1990.tb05516.x Tyzio, 2007, Timing of the developmental switch in GABA(A) mediated signaling from excitation to inhibition in CA3 rat hippocampus using gramicidin perforated patch and extracellular recordings, Epilepsia, 48, 96, 10.1111/j.1528-1167.2007.01295.x Valencia, 2006, Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex, J Child Neurol, 21, 1058, 10.1177/7010.2006.00242 Wang, 2007, Neocortical hyperexcitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression of TSC1, Ann Neurol, 61, 139, 10.1002/ana.21058 Lortie, 2002, Characteristics of epilepsy in focal cortical dysplasia in infancy, Epilepsy Res, 51, 133, 10.1016/S0920-1211(02)00102-X Willmore, 2009, Vigabatrin: 2008 update, Epilepsia, 50, 163, 10.1111/j.1528-1167.2008.01988.x Jambaque, 1991, Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings, Dev Med Child Neurol, 33, 698, 10.1111/j.1469-8749.1991.tb14947.x Karvelas, 2009, A retrospective study on aetiology based outcome of infantile spasms, Seizure, 18, 197, 10.1016/j.seizure.2008.09.006 Lagae, 2010, Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study, Seizure, 19, 159, 10.1016/j.seizure.2010.01.008 Goh, 2005, Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex, Neurology, 65, 235, 10.1212/01.wnl.0000168908.78118.99 Hunt, 1987, Psychiatric disorder among children with tuberous sclerosis, Dev Med Child Neurol, 29, 190, 10.1111/j.1469-8749.1987.tb02135.x Jeste, 2008, Characterization of autism in young children with tuberous sclerosis complex, J Child Neurol, 23, 520, 10.1177/0883073807309788 Moss, 2009, Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population, J Intellect Disabil Res, 53, 852, 10.1111/j.1365-2788.2009.01197.x Ehninger, 2008, Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis, Nat Med, 14, 843, 10.1038/nm1788 Goorden, 2007, Cognitive deficits in Tsc1+/− mice in the absence of cerebral lesions and seizures, Ann Neurol, 62, 648, 10.1002/ana.21317 Waltereit, 2011, Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats, Behav Genet, 41, 364, 10.1007/s10519-010-9399-0 Yates, 2006, Tuberous sclerosis, Eur J Hum Genet, 14, 1065, 10.1038/sj.ejhg.5201625 Napolioni, 2009, Recent advances in neurobiology of tuberous sclerosis complex, Brain Dev, 31, 104, 10.1016/j.braindev.2008.09.013 Chevere-Torres, 2011, Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin, Neurobiol Dis