Sclérose tubéreuse de Bourneville : actualités et perspectives
Tài liệu tham khảo
Ebrahimi-Fakhari, 2018, Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study, Orphanet J Rare Dis, 13, 117, 10.1186/s13023-018-0870-y
Sclérose Tubéreuse de Bourneville: protocole national de diagnostic et de soins (PNDS). Haute Autorité de Santé (HAS). n.d. https://www.has-sante.fr/jcms/p_3293728/fr/sclerose-tubereuse-de-bourneville.(accessed June 6, 2022).
Northrup, 2021, Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations, Pediatr Neurol, 123, 50, 10.1016/j.pediatrneurol.2021.07.011
Dragoumi, 2018, Diagnosis of tuberous sclerosis complex in the fetus, Eur J Paediatr Neurol EJPN, 22, 1027, 10.1016/j.ejpn.2018.08.005
Wortmann, 2008, Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature, Eur J Paediatr Neurol EJPN, 12, 123, 10.1016/j.ejpn.2007.06.006
Nabbout, 2018, Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study, Epilepsia Open, 4, 73, 10.1002/epi4.12286
Curatolo, 2015, Neurological and neuropsychiatric aspects of tuberous sclerosis complex, Lancet Neurol, 14, 733, 10.1016/S1474-4422(15)00069-1
Osborne, 2010, The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification, Epilepsia, 51, 2168, 10.1111/j.1528-1167.2010.02695.x
Moavero, 2020, Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?, Ann Clin Transl Neurol, 7, 1371, 10.1002/acn3.51128
Kingswood, 2017, TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients, Orphanet J Rare Dis, 12, 2, 10.1186/s13023-016-0553-5
Cusmai, 2011, Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis, Epilepsy Behav, 22, 735, 10.1016/j.yebeh.2011.08.037
De Ridder, 2021, Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes, Epilepsia, 62, 1208, 10.1111/epi.16892
Kotulska, 2021, Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial, Ann Neurol, 89, 304, 10.1002/ana.25956
Gaillard, 2020, Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?, Pediatr Radiol, 50, 1397, 10.1007/s00247-020-04707-z
de Vries, 2015, Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist, Pediatr Neurol, 52, 25, 10.1016/j.pediatrneurol.2014.10.004
de Vries, 2018, TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study, Orphanet J Rare Dis, 13, 157, 10.1186/s13023-018-0901-8
Cervi, 2020, The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1, Orphanet J Rare Dis, 15, 237, 10.1186/s13023-020-01488-4
Bar, 2019, Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex, Epilepsy Behav, 96, 23, 10.1016/j.yebeh.2019.04.027
Krueger, 2018, Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience, Eur J Paediatr Neurol EJPN, 22, 1066, 10.1016/j.ejpn.2018.06.007
Fallah, 2015, Resective epilepsy surgery for tuberous sclerosis in children: determining predictors of seizure outcomes in a multicenter retrospective cohort study, Neurosurgery, 77, 517, 10.1227/NEU.0000000000000875
