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